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 11551 - 11580 of 161300

Full-Text Articles in Medicine and Health Sciences

Combination Effect Of Finerenone And Empagliflozin In Participants With Chronic Kidney Disease And Type 2 Diabetes Using A Uacr Endpoint (Confidence) Trial: Baseline Clinical Characteristics, Rajiv Agarwal, Janet B Mcgill, Et Al. Aug 2025

Combination Effect Of Finerenone And Empagliflozin In Participants With Chronic Kidney Disease And Type 2 Diabetes Using A Uacr Endpoint (Confidence) Trial: Baseline Clinical Characteristics, Rajiv Agarwal, Janet B Mcgill, Et Al.

2020-Current year OA Pubs

BACKGROUND: Finerenone, a selective nonsteroidal mineralocorticoid receptor antagonist, and sodium-glucose cotransporter 2 inhibitors (SGLT2is) both reduce chronic kidney disease (CKD) progression and improve kidney/cardiovascular (CV) outcomes. The CONFIDENCE (COmbinatioN effect of FInerenone anD EmpaglifloziN in participants with chronic kidney disease and type 2 diabetes using a UACR Endpoint) study (NCT05254002; EudraCT 2021-003037-11) hypothesis is that early combination of finerenone and empagliflozin, an SGLT2i, is superior to either drug alone in reducing urine albumin-to-creatinine ratio (UACR) over 6 months.

METHODS: CONFIDENCE is an ongoing, fully enrolled, randomized, controlled, double-blind, multicentre phase 2 clinical trial in adults (≥18 years of age) with …


Tau Pet Positivity In Individuals With And Without Cognitive Impairment Varies With Age, Amyloid-Β Status, Apoe Genotype And Sex, Rik Ossenkoppele, Tammy L S Benzinger, Et Al. Aug 2025

Tau Pet Positivity In Individuals With And Without Cognitive Impairment Varies With Age, Amyloid-Β Status, Apoe Genotype And Sex, Rik Ossenkoppele, Tammy L S Benzinger, Et Al.

2020-Current year OA Pubs

Tau positron emission tomography (PET) imaging allows in vivo detection of tau proteinopathy in Alzheimer's disease, which is associated with neurodegeneration and cognitive decline. Understanding how demographic, clinical and genetic factors relate to tau PET positivity will facilitate its use for clinical practice and research. Here we conducted an analysis of 42 cohorts worldwide (N = 12,048), including 7,394 cognitively unimpaired (CU) participants, 2,177 participants with mild cognitive impairment (MCI) and 2,477 participants with dementia. We found that from age 60 years to 80 years, tau PET positivity in a temporal composite region increased from 1.1% to 4.4% among CU …


Human Thalamocortical Structural Connectivity Develops In Line With A Hierarchical Axis Of Cortical Plasticity, Valerie J Sydnor, Deanna M Barch, Et Al. Aug 2025

Human Thalamocortical Structural Connectivity Develops In Line With A Hierarchical Axis Of Cortical Plasticity, Valerie J Sydnor, Deanna M Barch, Et Al.

2020-Current year OA Pubs

Human cortical development follows a hierarchical, sensorimotor-to-association sequence. The brain's capacity to enact this sequence indicates that it relies on unknown mechanisms to regulate regional differences in the timing of cortical maturation. Given evidence from animal systems that thalamic axons mechanistically regulate periods of cortical plasticity, here we evaluate in humans whether the development of structural connections between the thalamus and cortex aligns with cortical maturational heterochronicity. By deriving a new tractography atlas of human thalamic connections and applying it to diffusion data from three youth samples (8-23 years; total n = 2,676), we demonstrate that thalamocortical connectivity matures in …


Shared And Disease-Specific Pathways In Frontotemporal Dementia And Alzheimer's And Parkinson's Diseases, Muhammad Ali, Yike Chen, Ying Xu, Katherine Gong, Menghan Liu, Jigyasha Timsina, Daniel Western, Chengran Yang, Gyujin Heo, Carlos Cruchaga, Et Al. Aug 2025

Shared And Disease-Specific Pathways In Frontotemporal Dementia And Alzheimer's And Parkinson's Diseases, Muhammad Ali, Yike Chen, Ying Xu, Katherine Gong, Menghan Liu, Jigyasha Timsina, Daniel Western, Chengran Yang, Gyujin Heo, Carlos Cruchaga, Et Al.

2020-Current year OA Pubs

Neurodegenerative diseases (NDs), such as Alzheimer's disease (AD), Parkinson's disease (PD) and frontotemporal dementia (FTD), exhibit distinct yet overlapping pathological mechanisms. Leveraging large-scale plasma proteomics data from the Global Neurodegeneration Proteomics Consortium, we analyzed 10,527 plasma samples (1,936 AD, 525 PD, 163 FTD, 1,638 dementia and 6,265 controls) to identify disease-specific and shared proteins across NDs. We identified 5,187 proteins significantly associated with AD, 3,748 with PD and 2,380 with FTD that revealed both common and divergent proteomic signatures, which were confirmed by multiple analytical approaches and orthogonal validation. PD and FTD showed the highest overlap (r


The Global Neurodegeneration Proteomics Consortium: Biomarker And Drug Target Discovery For Common Neurodegenerative Diseases And Aging, Farhad Imam, Muhammad Ali, Carlos Cruchaga, Chengran Yang, Et Al. Aug 2025

The Global Neurodegeneration Proteomics Consortium: Biomarker And Drug Target Discovery For Common Neurodegenerative Diseases And Aging, Farhad Imam, Muhammad Ali, Carlos Cruchaga, Chengran Yang, Et Al.

2020-Current year OA Pubs

More than 57 million people globally suffer from neurodegenerative diseases, a figure expected to double every 20 years. Despite this growing burden, there are currently no cures, and treatment options remain limited due to disease heterogeneity, prolonged preclinical and prodromal phases, poor understanding of disease mechanisms, and diagnostic challenges. Identifying novel biomarkers is crucial for improving early detection, prognosis, staging and subtyping of these conditions. High-dimensional molecular studies in biofluids ('omics') offer promise for scalable biomarker discovery, but challenges in assembling large, diverse datasets hinder progress. To address this, the Global Neurodegeneration Proteomics Consortium (GNPC)-a public-private partnership-established one of the …


Do Risk Factors For Hcc Impact The Association Of Ct/Mri Lirads Major Features With Hcc? An Individual Participant Data Meta-Analysis, Robert G Adamo, Daniel R Ludwig, Tyler J Fraum, Et Al. Aug 2025

Do Risk Factors For Hcc Impact The Association Of Ct/Mri Lirads Major Features With Hcc? An Individual Participant Data Meta-Analysis, Robert G Adamo, Daniel R Ludwig, Tyler J Fraum, Et Al.

2020-Current year OA Pubs

No abstract provided.


Integrative Genomic Reconstruction Reveals Heterogeneity In Carbohydrate Utilization Across Human Gut Bifidobacteria, Aleksandr A Arzamasov, Dmitry A Rodionov, Matthew C Hibberd, Janaki L Guruge, James E Kent, Marat D Kazanov, Semen A Leyn, Marinela L Elane, Kristija Sejane, Annalee Furst, Lars Bode, Michael J Barratt, Jeffrey I Gordon, Andrei L Osterman Aug 2025

Integrative Genomic Reconstruction Reveals Heterogeneity In Carbohydrate Utilization Across Human Gut Bifidobacteria, Aleksandr A Arzamasov, Dmitry A Rodionov, Matthew C Hibberd, Janaki L Guruge, James E Kent, Marat D Kazanov, Semen A Leyn, Marinela L Elane, Kristija Sejane, Annalee Furst, Lars Bode, Michael J Barratt, Jeffrey I Gordon, Andrei L Osterman

2020-Current year OA Pubs

Bifidobacteria are beneficial saccharolytic microbes that are widely used as probiotics or in synbiotic formulations, yet individual responses to supplementation can vary with strain type, microbiota composition, diet and lifestyle, underscoring the need for strain-level insights into glycan metabolism. Here we reconstructed 68 pathways for the utilization of mono-, di-, oligo- and polysaccharides by analysing the distribution of 589 curated metabolic gene functions (catabolic enzymes, transporters and transcriptional regulators) across 3,083 non-redundant Bifidobacterium genomes of human origin. Thirty-eight predicted phenotypes were validated in vitro for 30 geographically diverse strains, supporting genomics-based predictions. Our analysis uncovered extensive inter- and intraspecies functional …


The Microrna Mir-30a Blocks Adipose Tissue Fibrosis Accumulation In Obesity, Pradip K Saha, Robert Sharp, Aaron R. Cox, Rabie Habib, Michael J. Bolt, Jessica B. Felix, Claudia E. Ramirez Bustamante, Xin Li, Sung Yun Jung, Kang Ho Kim, Kai Sun, Huaizhu Wu, Samuel Klein, Sean M. Hartig Aug 2025

The Microrna Mir-30a Blocks Adipose Tissue Fibrosis Accumulation In Obesity, Pradip K Saha, Robert Sharp, Aaron R. Cox, Rabie Habib, Michael J. Bolt, Jessica B. Felix, Claudia E. Ramirez Bustamante, Xin Li, Sung Yun Jung, Kang Ho Kim, Kai Sun, Huaizhu Wu, Samuel Klein, Sean M. Hartig

2020-Current year OA Pubs

White adipose tissue (WAT) fibrosis occurring in obesity contributes to the inflammatory and metabolic comorbidities of insulin resistance and type 2 diabetes, yet the mechanisms involved remain poorly understood. Here, we report a role for the broadly conserved miRNA miR-30a as a regulator of WAT fibrosis and systemic glucose metabolism. Mice modified to express miR-30a at elevated levels in adipose tissues maintain insulin sensitivity coupled with reduced fatty liver disease when fed a high-fat diet. These effects were attributable to cell-autonomous functions of miR-30a that potently increase expression of adipocyte-specific genes. Proteomic screening revealed miR-30a limits profibrotic programs in subcutaneous …


Characteristics Of Responders To Interventions For Parkinson Disease: A Scoping Systematic Review, Sidney T. Baudendistel, Gammon M Earhart Aug 2025

Characteristics Of Responders To Interventions For Parkinson Disease: A Scoping Systematic Review, Sidney T. Baudendistel, Gammon M Earhart

2020-Current year OA Pubs

AIMS: The purpose of this review is to identify the characteristics of responders in interventions targeting motor function for individuals with Parkinson disease.

MATERIALS & METHODS: The primary search included, 'Parkinson' + 'responder.' A second, broader, search further included 'response' + 'responsiveness' + 'responsive.' Records were sorted by intervention: neuromodulation, pharmaceutical, physical, and placebo.

RESULTS: Thirteen studies were identified in the primary and 19 studies in the secondary search, culminating in 120 characteristics. For neuromodulation interventions, responders were younger at onset, more responsive to levodopa, and had more difficulties with activities of daily living. Responders to pharmaceuticals were younger at …


Massively Parallel Immunopeptidome By Dna Sequencing Provides Insights Into Cancer Antigen Presentation, Quanming Shi, Cheryl F Lichti, Et Al. Aug 2025

Massively Parallel Immunopeptidome By Dna Sequencing Provides Insights Into Cancer Antigen Presentation, Quanming Shi, Cheryl F Lichti, Et Al.

2020-Current year OA Pubs

Human leukocyte antigens (HLAs) are encoded by the most polymorphic genes in the human genome. HLA class I alleles control antigen presentation for T cell recognition, which is pivotal for autoimmunity, infectious diseases and cancer. Current knowledge of HLA-bound peptides is limited, skewed and falls short of population-wide HLA binding profiles for high-value targets. Here we present ESCAPE-seq (enhanced single-chain antigen presentation sequencing), a massively parallel platform for comprehensive screening of class I HLA-peptide combinations for antigen presentation via deep DNA sequencing. ESCAPE-seq demonstrates programmability, high throughput, sensitivity and nominated viral and cancer epitopes. We simultaneously assessed over 75,000 peptide-HLA …


Active Dna Demethylation Upstream Of Rod-Photoreceptor Fate Determination Is Required For Retinal Development, Ismael Hernández-Núñez, Alaina Urman, Xiaodong Zhang, William Jacobs, Christy Hoffmann, Ellen G. Harding, Shiming Chen, Meelad M. Dawlaty, Philip A. Ruzycki, John R. Edwards, Brian S. Clark Aug 2025

Active Dna Demethylation Upstream Of Rod-Photoreceptor Fate Determination Is Required For Retinal Development, Ismael Hernández-Núñez, Alaina Urman, Xiaodong Zhang, William Jacobs, Christy Hoffmann, Ellen G. Harding, Shiming Chen, Meelad M. Dawlaty, Philip A. Ruzycki, John R. Edwards, Brian S. Clark

2020-Current year OA Pubs

Retinal cell fate specification from multipotent retinal progenitors is governed by dynamic changes in chromatin structure and gene expression. Methylation at cytosines in DNA (5mC) is actively regulated for proper control of gene expression and chromatin architecture. Numerous genes display active DNA demethylation across retinal development; a process that requires oxidation of 5mC to 5-hydroxymethylcytosine (5hmC) and is controlled by the ten-eleven translocation (TET) methylcytosine dioxygenase enzymes. Using an allelic series of conditional TET enzyme mutants in mice, we determine that DNA demethylation is required upstream of NRL and NR2E3 expression for the establishment of rod-photoreceptor fate. Using histological, behavioral, …


Autophagy Regulates Müller Glial Cell Inflammatory Activation, Teresa A Doggett, Zhenqing Zhou, Sohini Rebba, Jacqueline Unsinger, Philip A Ruzycki, Thomas A Ferguson Aug 2025

Autophagy Regulates Müller Glial Cell Inflammatory Activation, Teresa A Doggett, Zhenqing Zhou, Sohini Rebba, Jacqueline Unsinger, Philip A Ruzycki, Thomas A Ferguson

2020-Current year OA Pubs

PURPOSE: We tested whether Müller cells utilize autophagy to support immune privilege in the eye.

METHODS: The essential autophagy gene Atg5 was deleted in retinal Müller cells. Inflammation was induced by intravitreal injection of lipopolysaccharide (LPS) that was monitored by hematoxylin and eosin (H&E) staining, immunofluorescent confocal microscopy, and flow cytometry. Single-cell RNA sequencing was performed on retinal Müller cells isolated from control and Atg5-deficient mice. Markers of Müller cell gliosis were assessed, and cytokine production in the eye was measured. Small interfering RNA knockdown techniques were used to examine LPS-induced inflammatory pathways in culture.

RESULTS: We observed increased and …


Validation Of The Brugia Test Plus To Detect Igg4 Antibodies In Individuals From Belitung Timur, A Brugia Malayi Endemic Area In Indonesia, Taniawati Supali, Elisa Iskandar, Noviani Sugianto, Yenny Djuardi, Katherine Gass, Jean M. Saunders, Peter U. Fischer, Marco A. Biamonte Aug 2025

Validation Of The Brugia Test Plus To Detect Igg4 Antibodies In Individuals From Belitung Timur, A Brugia Malayi Endemic Area In Indonesia, Taniawati Supali, Elisa Iskandar, Noviani Sugianto, Yenny Djuardi, Katherine Gass, Jean M. Saunders, Peter U. Fischer, Marco A. Biamonte

2020-Current year OA Pubs

The Brugia Test Plus (BT+) is a new rapid diagnostic test for Brugia species which detects human IgG4 antibodies specific for the immunogenic Brugia protein BmR1. The aim of this study was to evaluate the BT+ assay with several types of sample-matrices: whole blood, plasma, and dried blood spots (DBS) from individuals living in Belitung Timur, a Brugia malayi endemic area in Indonesia. Night blood was collected from residents living in four presumed endemic villages, while DBS were collected from schoolchildren living in those four villages. The sensitivity of BT+ was measured by comparing the BT+ results to microscopic examination …


Longer Scans Boost Prediction And Cut Costs In Brain-Wide Association Studies, Leon Qi Rong Ooi, Scott Marek, Nico U F Dosenbach, Timothy O Laumann, Evan M Gordon, Et Al. Aug 2025

Longer Scans Boost Prediction And Cut Costs In Brain-Wide Association Studies, Leon Qi Rong Ooi, Scott Marek, Nico U F Dosenbach, Timothy O Laumann, Evan M Gordon, Et Al.

2020-Current year OA Pubs

A pervasive dilemma in brain-wide association studies


Germline Genetic Variation Impacts Clonal Hematopoiesis Landscape And Progression To Malignancy, Jie Liu, Duc Tran, Brian J Wiley, Irenaeus C C Chan, Indraniel Das, Li Ding, Yin Cao, Matthew J Walter, Daniel C Link, Kelly L Bolton, Et Al. Aug 2025

Germline Genetic Variation Impacts Clonal Hematopoiesis Landscape And Progression To Malignancy, Jie Liu, Duc Tran, Brian J Wiley, Irenaeus C C Chan, Indraniel Das, Li Ding, Yin Cao, Matthew J Walter, Daniel C Link, Kelly L Bolton, Et Al.

2020-Current year OA Pubs

With age, clonal expansions occur pervasively across normal tissues yet only in rare instances lead to cancer, despite being driven by well-established cancer drivers. Characterization of the factors that influence clonal progression is needed to inform interventional approaches. Germline genetic variation influences cancer risk and shapes tumor mutational profile, but its influence on the mutational landscape of normal tissues is not well known. Here we studied the impact of germline genetic variation on clonal hematopoiesis (CH) in 731,835 individuals. We identified 22 new CH-predisposition genes, most of which predispose to CH driven by specific mutational events. CH-predisposition genes contribute to …


The Ccjr® Charles A. Engh, Sr, Md. Excellence In Hip Research Award: Pelvic Tilt And Cup Position Change Significantly In Most Young Patients 10 Years After Hip Arthroplasty, Joseph J Kromka, William A Zuke, Caroline J Granger, John C Clohisy, Robert L Barrack Aug 2025

The Ccjr® Charles A. Engh, Sr, Md. Excellence In Hip Research Award: Pelvic Tilt And Cup Position Change Significantly In Most Young Patients 10 Years After Hip Arthroplasty, Joseph J Kromka, William A Zuke, Caroline J Granger, John C Clohisy, Robert L Barrack

2020-Current year OA Pubs

BACKGROUND: Acetabular cup position is fundamental to total hip arthroplasty (THA) and surface replacement arthroplasty (SRA). Even if initial cup placement is adequate, changes in spinopelvic relationships alter functional acetabular position over time. This can lead to late complications. The purpose of this study was to examine changes in pelvic tilt and acetabular position in patients with at least 10 years of follow-up after THA or SRA.

METHODS: A retrospective review was conducted of patients from one academic practice who underwent THA or SRA and had at least 10 years of follow-up. Pelvic ratio was measured and converted to pelvic …


High-Density Lipoprotein-Associated Cholesterol Abnormalities In A Clinical Outcomes Study Of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2, Zoe White, Alan Pestronk, Et Al. Aug 2025

High-Density Lipoprotein-Associated Cholesterol Abnormalities In A Clinical Outcomes Study Of Dysferlin-Deficient Limb-Girdle Muscular Dystrophy Type R2, Zoe White, Alan Pestronk, Et Al.

2020-Current year OA Pubs

BACKGROUND: Limb-girdle muscular dystrophy (MD) type R2 (LGMDR2, formerly LGMD2B) is an autosomal recessive form of MD caused by variants in the dysferlin gene, DYSF. It leads to slow proximal and distal muscle weakening that generally results in loss of ambulation around early adulthood but without the lethal cardiorespiratory dysfunction observed in the more severe Duchenne MD. How loss of dysferlin causes muscle fibre death is poorly understood, but recent evidence suggests a link between muscle wasting and loss of muscle cholesterol homeostasis with circulating lipoprotein abnormalities in many forms of MD.

METHODS: Cross-sectional circulating total cholesterol (CHOL), high-density lipoprotein-associated …


Building Capacity And Equity In Implementation Science: Evaluation Of A National Mentored Training Program, Ross C Brownson, Shelly J Kannuthurai, Rebekah R Jacob, Leopoldo J Cabassa, Lisa M Klesges, Rachel G Tabak, Debra Haire-Joshu, Et Al. Aug 2025

Building Capacity And Equity In Implementation Science: Evaluation Of A National Mentored Training Program, Ross C Brownson, Shelly J Kannuthurai, Rebekah R Jacob, Leopoldo J Cabassa, Lisa M Klesges, Rachel G Tabak, Debra Haire-Joshu, Et Al.

2020-Current year OA Pubs

BACKGROUND: As implementation science evolves, it is essential to expand training capacity to build intellectual capital continually. The demand for training in implementation science far outstrips the current supply. This paper presents the methods and findings from the Institute for Implementation Science Scholars (IS-2) national training program (2020-2024).

METHODS: The IS-2 was a US-based, two-year training program that provided mentored training for early- and mid-career researchers interested in applying implementation science principles to reduce the burden of chronic disease disparities. Scholars attended two annual, 2.5-day intensive training sessions, received ongoing remote and in-person mentoring, and were supported by other activities …


Impact Of Hereditary Angioedema Attacks On Health-Related Quality Of Life And Work Productivity, Maeve O'Connor, Paula J Busse, Timothy J Craig, Cristine Radojicic, H James Wedner, Sherry Danese, Julie Ulloa, Vibha Desai, Tomas Andriotti, Paul K Audhya, Sandra Christiansen Aug 2025

Impact Of Hereditary Angioedema Attacks On Health-Related Quality Of Life And Work Productivity, Maeve O'Connor, Paula J Busse, Timothy J Craig, Cristine Radojicic, H James Wedner, Sherry Danese, Julie Ulloa, Vibha Desai, Tomas Andriotti, Paul K Audhya, Sandra Christiansen

2020-Current year OA Pubs

BACKGROUND: Hereditary angioedema (HAE) negatively impacts health-related quality of life (HRQoL). Few studies have characterized impairments to HRQoL, work productivity, and well-being during and following HAE attacks.

METHODS: Patients with ≥1 HAE attack in the previous 3 months were recruited by the United States (US) HAE Association (HAEA) to complete an online survey. Respondents were categorized into those who did (Treated Cohort) and did not (Untreated Cohort) manage their last attack with on-demand treatment (OD). Adapted versions of the EuroQol-Five Dimensions-Five Levels (EQ-5D-5L), EuroQol Visual Analogue Scale (EQ VAS), and Work Productivity and Activity Impairment-General Health assessments were used.

RESULTS: …


Sex-Related Variability In The Perception Of Symptoms Associated With Common Otolaryngologic Complaints, Sabrina K Wagner, Jakob L Fischer, Alvaro Navarro, Lily Trinh, Waleed M Abuzeid, Ian M Humphreys, Nadeem A Akbar, Sharan Shah, Jivianne T Lee, Tara Wu, John S Schneider, Edward D Mccoul, Charles A Riley, Anthony M Tolisano Aug 2025

Sex-Related Variability In The Perception Of Symptoms Associated With Common Otolaryngologic Complaints, Sabrina K Wagner, Jakob L Fischer, Alvaro Navarro, Lily Trinh, Waleed M Abuzeid, Ian M Humphreys, Nadeem A Akbar, Sharan Shah, Jivianne T Lee, Tara Wu, John S Schneider, Edward D Mccoul, Charles A Riley, Anthony M Tolisano

2020-Current year OA Pubs

OBJECTIVE: To assess the differences in the symptoms associated with common otolaryngology complaints between male and female patients.

METHODS: Between June 2020 and July 2023, a multi-institutional cross-sectional study was performed at six tertiary academic otolaryngology practices using semantics-based questionnaires to assess the symptoms patients associate with the complaints of sinus infection, reflux, congestion, and dizziness. Patients selected symptoms from lists of proposed terms to describe the various conditions. The primary outcome measure was sex-related differences in respondent symptom selection.

RESULTS: Four separate questionnaires were completed by a total of 1495 patients (46.0% male, 54.0% female). Female patients more often …


Society For Healthcare Epidemiology Of America (Shea) Infectious Diseases Fellow Infection Prevention And Control And Healthcare Epidemiology Curriculum, Elise M Martin, Catherine Cichon, Rebecca Choudhury, Shandra R Day, Yasaman Fatemi, Vera P Luther, Terri Stillwell, Abby Sung Aug 2025

Society For Healthcare Epidemiology Of America (Shea) Infectious Diseases Fellow Infection Prevention And Control And Healthcare Epidemiology Curriculum, Elise M Martin, Catherine Cichon, Rebecca Choudhury, Shandra R Day, Yasaman Fatemi, Vera P Luther, Terri Stillwell, Abby Sung

2020-Current year OA Pubs

With the rapid expansion of the Infection Prevention Control/Healthcare Epidemiology (IPC/HE) fields over recent decades, the pivotal roles of IPC/HE in hospital regulation, quality improvement, patient safety, and healthcare finances have become increasingly apparent. Consequently, the demand for effective IPC/HE leaders has surged.


Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Joel S Perlmutter, Et Al. Aug 2025

Genetic Diversity And Expanded Phenotypes In Dystonia: Insights From Large-Scale Exome Sequencing, Mirja Thomsen, Joel S Perlmutter, Et Al.

2020-Current year OA Pubs

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 …


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 Aug 2025

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

2020-Current year OA Pubs

BACKGROUND: Knowledge gaps exist regarding the role of coagulation pathway mutations such as those in the plasminogen (

OBJECTIVES: This study aims to describe the unique phenotypic features of patients with

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 to have a

RESULTS: Over the 12-year study period, we identified 6 individuals in our TMA cohort with

CONCLUSION: Patients with


Medicaid Accessibility For Ophthalmologists And Optometrists In Florida: A Pilot Study, Darby D Miller, Isabella V. Wagner, Michael W. Stewart, Abhimanyu S. Ahuja, Syril Dorairaj, Richard D. Ten Hulzen, Aaron Y. Lee Aug 2025

Medicaid Accessibility For Ophthalmologists And Optometrists In Florida: A Pilot Study, Darby D Miller, Isabella V. Wagner, Michael W. Stewart, Abhimanyu S. Ahuja, Syril Dorairaj, Richard D. Ten Hulzen, Aaron Y. Lee

2020-Current year OA Pubs

OBJECTIVE AND METHODS: This study aimed to evaluate Medicaid accessibility for ophthalmologists and optometrists in Florida. A cross-sectional telephone survey was conducted between February and March 2018 using a geographically uniform sample of 22 ophthalmologists and 80 optometrists registered with Medicaid. Providers were asked whether they accepted new Medicaid patients (adult and/or pediatric) and for the earliest available appointment. Categorical variables were compared using Fisher's exact test, and time to next appointment was analyzed using the Wilcoxon rank-sum test (α = 0.05).

RESULTS: Across all age groups, a greater proportion of ophthalmologists (95.4%) accepted some form of Medicaid compared to …


Inter-Organ Communication Is A Critical Machinery To Regulate Metabolism And Aging, Kyohei Tokizane, Shin-Ichiro Imai Aug 2025

Inter-Organ Communication Is A Critical Machinery To Regulate Metabolism And Aging, Kyohei Tokizane, Shin-Ichiro Imai

2020-Current year OA Pubs

Inter-organ communication (IOC) is a complex mechanism involved in maintaining metabolic homeostasis and healthy aging. Dysregulation of distinct forms of IOC is linked to metabolic derangements and age-related pathologies, implicating these processes as a potential target for therapeutic intervention to promote healthy aging. In this review, we delve into IOC mediated by hormonal signaling, circulating factors, organelle signaling, and neuronal networks and examine their roles in regulating metabolism and aging. Given the role of the hypothalamus as a high-order control center for aging and longevity, we particularly emphasize the importance of its communication with peripheral organs and pave the way …


Comparing Machine Learning Techniques For Neonatal Mortality Prediction: Insights From A Modeling Competition, Brynne A Sullivan, Alvaro G Moreira, Ryan M Mcadams, Lindsey A Knake, Ameena Husain, Jiaxing Qiu, Avinash Mudireddy, Abrar Majeedi, Wissam Shalish, Douglas E Lake, Zachary A Vesoulis Aug 2025

Comparing Machine Learning Techniques For Neonatal Mortality Prediction: Insights From A Modeling Competition, Brynne A Sullivan, Alvaro G Moreira, Ryan M Mcadams, Lindsey A Knake, Ameena Husain, Jiaxing Qiu, Avinash Mudireddy, Abrar Majeedi, Wissam Shalish, Douglas E Lake, Zachary A Vesoulis

2020-Current year OA Pubs

BACKGROUND: Predicting mortality risk in neonatal intensive care units (NICUs) is challenging due to complex, variable clinical and physiological data. Machine learning (ML) offers potential for more accurate risk stratification.

OBJECTIVE: To compare the performance of various ML models in predicting NICU mortality using a team-based modeling competition.

METHODS: We conducted a modeling competition with five neonatologist-led teams applying ML techniques-logistic regression, CatBoost, neural networks, random forest, and XGBoost-to a shared dataset from over 6,000 NICU admissions. The dataset included static demographic and clinical variables, alongside daily samples of heart rate and oxygen saturation. Each team developed models to predict …


Autism And Intellectual Disability Due To A Novel Gain-Of-Function Mutation In Ube3a, Anna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, Devorah Segal, Nicolas J Abreu, Jason J Yi Aug 2025

Autism And Intellectual Disability Due To A Novel Gain-Of-Function Mutation In Ube3a, Anna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, Devorah Segal, Nicolas J Abreu, Jason J Yi

2020-Current year OA Pubs

The loss of maternal UBE3A causes Angelman syndrome whereas its duplication is associated with a heterogeneous neurodevelopmental disorder. Here, we describe two affected brothers who possess a novel UBE3A


A Measurement Science Framework To Optimize Cds For Opioid Use Disorder Treatment In The Ed, Mark S. Iscoe, Carolina Diniz Hooper, Deborah R. Levy, John Lutz, Hyung Paek, Christian Rose, Thomas Kannampallil, Daniella Meeker, James D. Dziura, Edward R. Melnick Aug 2025

A Measurement Science Framework To Optimize Cds For Opioid Use Disorder Treatment In The Ed, Mark S. Iscoe, Carolina Diniz Hooper, Deborah R. Levy, John Lutz, Hyung Paek, Christian Rose, Thomas Kannampallil, Daniella Meeker, James D. Dziura, Edward R. Melnick

2020-Current year OA Pubs

In the emergency department-initiated buprenorphine for opioid use disorder (EMBED) trial, a clinical decision support (CDS) tool had no effect on rates of buprenorphine initiation in emergency department (ED) patients with opioid use disorder. The Agency for Healthcare Research and Quality (AHRQ) recently released a CDS Performance Measure Inventory to guide data-driven CDS development and evaluation. Through partner co-design, we tailored AHRQ inventory measures to evaluate EMBED CDS performance and drive improvements.Relevant AHRQ inventory measures were selected and adapted using a partner co-design approach grounded in consensus methodology, with three iterative, multidisciplinary partner working group sessions involving stakeholders from various …


Impact Of Transcatheter Aortic Valve Replacement Use Ratio On Outcomes In Patients With Aortic Valve Disease, Theodore Marghitu, Sophia H Roberts, June He, Nicholas Kouchoukos, Puja Kachroo, Harold Roberts, Ralph Damiano, Alan Zajarias, Marc Sintek, John Lasala, Alexander A Brescia, Tsuyoshi Kaneko Aug 2025

Impact Of Transcatheter Aortic Valve Replacement Use Ratio On Outcomes In Patients With Aortic Valve Disease, Theodore Marghitu, Sophia H Roberts, June He, Nicholas Kouchoukos, Puja Kachroo, Harold Roberts, Ralph Damiano, Alan Zajarias, Marc Sintek, John Lasala, Alexander A Brescia, Tsuyoshi Kaneko

2020-Current year OA Pubs

OBJECTIVE: Use of the Heart Team has been the standard of care for the treatment of aortic valve disease; however, its efficacy has not been evaluated. We sought to analyze its impact using the transcatheter aortic valve replacement (TAVR) use ratio (number of TAVR/total aortic valve replacement [AVR] volume) on TAVR, surgical aortic valve replacement (SAVR), and overall AVR outcomes.

METHODS: We analyzed all TAVRs and SAVRs sampled by the National Readmissions Database between 2016 and 2020. Hospitals were stratified into quartiles on the basis of their TAVR/AVR ratio. Centers with a ratio below the first quartile were considered "low …


Changing The Perceived Pain Intensity In Populations With Spinal Cord Injury And With Health Disparities (Happiness): Protocol For A Feasibility Study, Ann Van De Winckel, Lin Zhang, Leslie R. Morse, Brianna Woodliff, Gladys Maestre, Kelsey Baker Aug 2025

Changing The Perceived Pain Intensity In Populations With Spinal Cord Injury And With Health Disparities (Happiness): Protocol For A Feasibility Study, Ann Van De Winckel, Lin Zhang, Leslie R. Morse, Brianna Woodliff, Gladys Maestre, Kelsey Baker

School of Medicine Publications

Background: Chronic neuropathic pain affects 69% of adults with spinal cord injury (SCI). Medication, as a primary treatment, has insufficient benefits and significant risks for addiction and adverse effects. Of the available mind and body approaches, Qigong is the most accessible for adults with SCI, with evidence for effectiveness in reducing pain. Still, there is insufficient evidence to make recommendations for adults with SCI. Thus, the feasibility of Qigong in SCI needs to be established. We previously demonstrated feasibility in a pilot study, in which 18 non-Hispanic White adults with SCI completed a 12-week remote Qigong program. However, three additional …