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Articles 6031 - 6060 of 25744

Full-Text Articles in Medicine and Health Sciences

Exploring Factors Contributing To Patient Decision-Making In The Care Journey To Elective Hernia Care In Kenya, Helen W. Li, Jesse Kiprono Too, Sarah Nyanchama Nyariki, Charles Nathan Nessle, Sara Malone, Rachel Matsumoto, Teddy Ashibende Aurah, Jeffrey A. Blatnik, Joanna Hunter-Squires, Ivan Seno Saruni Jan 2025

Exploring Factors Contributing To Patient Decision-Making In The Care Journey To Elective Hernia Care In Kenya, Helen W. Li, Jesse Kiprono Too, Sarah Nyanchama Nyariki, Charles Nathan Nessle, Sara Malone, Rachel Matsumoto, Teddy Ashibende Aurah, Jeffrey A. Blatnik, Joanna Hunter-Squires, Ivan Seno Saruni

2020-Current year OA Pubs

BACKGROUND: Capacity for elective general surgical care is an important reflection of a health system's ability to meet a population's surgical needs and is currently known to be inadequate in many low- and middle-income countries. Patient agency is a key, understudied factor which shapes how and when patients ultimately decide to engage with formal care. Understanding factors which influence patient care seeking activity can have important implications for how current and future health systems may be utilized. This study aims to explore how patients approach the navigation and triage of their elective hernia condition within the Kenyan surgical care system. …


Tourette Syndrome Research Highlights From 2024 [Version 3; Peer Review: 2 Approved, 1 Approved With Reservations], Andreas Hartmann, Per Andrén, Cyril Atkinson-Clement, Virginie Czernecki, Cécile Delorme, Simon Morand-Beaulieu, Nanette Mol Debes, Kirsten Müller-Vahl, Peristera Paschou, Natalia Szejko, Apostolia Topaloudi, Kevin J Black Jan 2025

Tourette Syndrome Research Highlights From 2024 [Version 3; Peer Review: 2 Approved, 1 Approved With Reservations], Andreas Hartmann, Per Andrén, Cyril Atkinson-Clement, Virginie Czernecki, Cécile Delorme, Simon Morand-Beaulieu, Nanette Mol Debes, Kirsten Müller-Vahl, Peristera Paschou, Natalia Szejko, Apostolia Topaloudi, Kevin J Black

2020-Current year OA Pubs

We summarize research reports from 2024 relevant to Tourette syndrome, which the authors consider the most important or interesting. This working draft aims to submit this content for publication around the beginning of 2025 in the yearly Tourette Syndrome Research Highlights series on F1000Research. The authors welcome article suggestions and thoughtful feedback from readers, who can add a comment by clicking on the rectangular comment box icon to the left of the LOG IN link at the top of this page. For private comments, you can reach us by email ( [email protected] or [email protected]).


Expert Consensus On The Diagnosis And Management Of Digoxin Toxicity, Jason B Hack, Sue Wingate, Ron Zolty, Michael W Rich, Paul J Hauptman Jan 2025

Expert Consensus On The Diagnosis And Management Of Digoxin Toxicity, Jason B Hack, Sue Wingate, Ron Zolty, Michael W Rich, Paul J Hauptman

2020-Current year OA Pubs

While there has been a decline in the use of digoxin in patients with heart failure and atrial fibrillation, acute and chronic digoxin toxicity remains a significant clinical problem. Digoxin's narrow therapeutic window and nonspecific signs and symptoms of toxicity create clinical challenges and uncertainty around the diagnostic criteria of toxicity and responsive treatment choices for the bedside clinician. A systematic review of published literature on digoxin toxicity (34,587 publications over 6 decades, with 114 meeting inclusion criteria) was performed to develop 33 consensus statements on diagnostic and therapeutic approaches which were then evaluated through a modified Delphi process involving …


Nutcracker Syndrome (A Delphi Consensus), Floor Heilijgers, Suresh Vedantham, Et Al. Jan 2025

Nutcracker Syndrome (A Delphi Consensus), Floor Heilijgers, Suresh Vedantham, Et Al.

2020-Current year OA Pubs

BACKGROUND: Nutcracker syndrome (NCS) describes the symptomatic compression of the left renal vein between the aorta and superior mesenteric artery. Whereas asymptomatic compression is a common radiological finding, patients with NCS can report a range of symptoms. There are no specific diagnostic criteria and interventions include a range of open surgical and endovascular procedures. Therefore, we wished to develop an international consensus document covering aspects of diagnosis, management, and follow-up for patients with NCS.

METHODS: A three-stage modified Delphi consensus was performed. A steering committee developed 37 statements covering 3 categories for patients with NCS: diagnosis, management, and follow-up. These …


Improving Outcomes Of Single-Sided Deaf Cochlear Implant Users By Reducing Interaural Frequency And Loudness Mismatches Through Device Programming, Laura K Holden, Rosalie M Uchanski, Noël Y Dwyer, Ruth M Reeder, Timothy A Holden, Jill B Firszt Jan 2025

Improving Outcomes Of Single-Sided Deaf Cochlear Implant Users By Reducing Interaural Frequency And Loudness Mismatches Through Device Programming, Laura K Holden, Rosalie M Uchanski, Noël Y Dwyer, Ruth M Reeder, Timothy A Holden, Jill B Firszt

2020-Current year OA Pubs

The study aimed to improve outcomes in Nucleus cochlear implant (CI) recipients with single-sided deafness (SSD) by reducing interaural frequency and loudness mismatches through device programming. In Experiment 1a, a modified frequency allocation table (FAT) was created to better match the tonotopicity of the contralateral ear and reduce interaural frequency mismatch. Twenty experienced SSD-CI users completed localization and speech recognition tests with their everyday FAT. Tests were repeated after 6 weeks' use of the modified FAT. Participants compared both FATs for 2 weeks before being tested again with each. For 10 newly implanted SSD-CI recipients (Experiment 1b), Group A was …


The Role Of Telehealth In Sepsis Care In Rural Emergency Departments: A Qualitative Study Of Emergency Department Sepsis Telehealth User Perspectives, Nicholas M. Mohr, Kimberly A. S. Merchant, Brian M. Fuller, Brett Faine, Luke Mack, Amanda Bell, Katie Dejong, Edith A. Parker, Keith Mueller, Elizabeth Chrischilles, Christopher R. Carpenter, Michael P. Jones, Steven Q. Simpson, Marcia M. Ward Jan 2025

The Role Of Telehealth In Sepsis Care In Rural Emergency Departments: A Qualitative Study Of Emergency Department Sepsis Telehealth User Perspectives, Nicholas M. Mohr, Kimberly A. S. Merchant, Brian M. Fuller, Brett Faine, Luke Mack, Amanda Bell, Katie Dejong, Edith A. Parker, Keith Mueller, Elizabeth Chrischilles, Christopher R. Carpenter, Michael P. Jones, Steven Q. Simpson, Marcia M. Ward

2020-Current year OA Pubs

PURPOSE: Sepsis is a leading cause of hospitalization and death in the United States, and rural patients are at particularly high risk. Telehealth has been proposed as one strategy to narrow rural-urban disparities. The objective of this study was to understand why rural emergency department (ED) staff use provider-to-provider telehealth (tele-ED) and how tele-ED care changes the care for rural patients with sepsis.

METHODS: We conducted a qualitative interview study between February 15, 2022, and May 22, 2023, with participants from upper Midwest rural EDs and tele-ED hub physicians in a single tele-ED network that delivers provider-to-provider consultation for sepsis …


Viral Kinetics Among Persons Living With Hiv (Plwh) On Dolutegravir-Based Antiretroviral Regimen: A Retrospective And Prospective Analysis From Selected Hiv Clinics In Ghana, Samuel Badu Nyarko, Joel Adu Twum, Aikins Sarpong Obeng, Helena Dede Djangba, Oksana Ryabinina, Foster Kyei, George Boateng Kyei, Nicholas Ekow Thomford Jan 2025

Viral Kinetics Among Persons Living With Hiv (Plwh) On Dolutegravir-Based Antiretroviral Regimen: A Retrospective And Prospective Analysis From Selected Hiv Clinics In Ghana, Samuel Badu Nyarko, Joel Adu Twum, Aikins Sarpong Obeng, Helena Dede Djangba, Oksana Ryabinina, Foster Kyei, George Boateng Kyei, Nicholas Ekow Thomford

2020-Current year OA Pubs

BACKGROUND: Dolutegravir (DTG)-based antiretroviral therapy has demonstrated superior efficacy, tolerability, and durability when compared to other HIV treatment regimens. However, monitoring viral kinetics is critical for determining treatment efficacy and making sound judgments. The purpose of this study was to assess viral kinetics in people living with HIV (PLWH) on DTG-based ART and identify characteristics related to virologic response in the Cape Coast Metropolis, Ghana.

METHODS: Among people living with HIV (PLWH) attending HIV clinics between January 2020 and December 2023, a prospective and retrospective analysis of viral kinetics and clinical data were carried out. Data on viral loads, clinical …


Testing Job Wellbeing Indicators Among Community Behavioral Health Workers: Community-Based Participatory Research, Sadaaki Fukui, Wei Wu, Jennifer Garabrant, Michelle P. Salyers, Nathaniel Dell, Emily Bass, Jaime Greenfield, Gary Morse Jan 2025

Testing Job Wellbeing Indicators Among Community Behavioral Health Workers: Community-Based Participatory Research, Sadaaki Fukui, Wei Wu, Jennifer Garabrant, Michelle P. Salyers, Nathaniel Dell, Emily Bass, Jaime Greenfield, Gary Morse

2020-Current year OA Pubs

Many community behavioral health organizations (CBHOs) continue to struggle with their employees' reduced job wellbeing and job disengagement (i.e., turnover intentions, actual turnover). Understanding employees' job wellbeing priorities in their organizational contexts is essential to address the challenges, especially for workers in diverse work settings such as CBHOs. We used community-based participatory research (CBPR) strategies to develop and test job wellbeing indicators. The current study implemented 11 indicators with 168 people employed at a CBHO through initial and 6-month follow-up surveys. Positive endorsement of job wellbeing indicators differed based on employees' demographic (e.g., race, education, marital status) and job (e.g., …


Rethinking Immune Check Point Inhibitors Use In Liver Transplantation: Implications And Resistance, Vivian Ortiz, Emilien Loeuillard Jan 2025

Rethinking Immune Check Point Inhibitors Use In Liver Transplantation: Implications And Resistance, Vivian Ortiz, Emilien Loeuillard

2020-Current year OA Pubs

Immune checkpoint inhibitors (ICIs) have revolutionized cancer therapy, including the two most common liver tumors, hepatocellular carcinoma and cholangiocarcinoma, but their use in the peri-transplantation period is controversial. ICI therapy aims to heighten cytotoxic T lymphocytes response against tumors. However, tumor recurrence is common owing to tumor immune response escape involving ablation of CTL response by interfering with antigen presentation, triggering CLT apoptosis and inducing epigenetic changes that promote ICI therapy resistance. ICI can also affect tissue resident memory T cell population, impact tolerance in the post-transplant period, and induce acute inflammation risking graft survival post-transplant. Their interaction with immunosuppression …


Reliability Of Wrist Arthroscopy In The Diagnosis And Treatment Of Triangular Fibrocartilage Complex Tears, Elizabeth A Graesser, Lindley B Wall, Sanjeev Kakar, Jeffrey Yao, Marc J Richard, R Glenn Gaston, Charles A Goldfarb Jan 2025

Reliability Of Wrist Arthroscopy In The Diagnosis And Treatment Of Triangular Fibrocartilage Complex Tears, Elizabeth A Graesser, Lindley B Wall, Sanjeev Kakar, Jeffrey Yao, Marc J Richard, R Glenn Gaston, Charles A Goldfarb

2020-Current year OA Pubs

PURPOSE: Wrist arthroscopy is considered the gold standard for diagnosis of intra-articular wrist conditions including triangular fibrocartilage complex (TFCC) tears; however, the ability to reliably diagnose TFCC pathology during wrist arthroscopy is unclear. The purpose of this study was to assess the reliability of the diagnosis of TFCC tears on wrist arthroscopy videos.

METHODS: Five hand surgeons reviewed 43 cases on a secure web-based platform at two time points separated by 4-6 weeks. Each case included a deidentified clinical vignette and wrist radiographs with ulnar variance measurements and an arthroscopy video of ulnar wrist pathology, averaging 42 seconds. Surgeons were …


Costs Of Non-Metastatic Prostate Cancer Treatment Among Privately Insured Men In The United States, Ashley J. Housten, Su-Hsin Chang, Hannah E. Rice, Allison J. L'Hotta, Eric H. Kim, Bettina F. Drake, Joanna L. Buss, Mary C. Politi Jan 2025

Costs Of Non-Metastatic Prostate Cancer Treatment Among Privately Insured Men In The United States, Ashley J. Housten, Su-Hsin Chang, Hannah E. Rice, Allison J. L'Hotta, Eric H. Kim, Bettina F. Drake, Joanna L. Buss, Mary C. Politi

2020-Current year OA Pubs

BACKGROUND: Our objective was to quantify the cumulative total and out-of-pocket (OOP) costs for 3 non-metastatic prostate cancer treatment modalities: radiation, surgery, and conservative management at intervals of 1-, 3-, and 5-years post-diagnosis. We predicted these cumulative costs for a typical patient to improve cost transparency, facilitate conversations about potential costs, and to help advance non-metastatic prostate cancer cost evaluation.

METHODS: We used Merative™ MarketScan® Commercial Database data from 2007-2020. The cumulative total costs evaluated from the healthcare sector perspective were patient, clinician, and system/facility costs. We used descriptive statistics to summarize the sociodemographic characteristics of the cohort and a …


Vibrotactile Auricular Vagus Nerve Stimulation Alters Limbic System Connectivity In Humans: A Pilot Study, Kara M. Donovan, Joshua D. Adams, Ki Yun Park, Phillip Demarest, Gansheng Tan, Jon T. Willie, Peter Brunner, Jenna L. Gorlewicz, Eric C. Leuthardt Jan 2025

Vibrotactile Auricular Vagus Nerve Stimulation Alters Limbic System Connectivity In Humans: A Pilot Study, Kara M. Donovan, Joshua D. Adams, Ki Yun Park, Phillip Demarest, Gansheng Tan, Jon T. Willie, Peter Brunner, Jenna L. Gorlewicz, Eric C. Leuthardt

2020-Current year OA Pubs

Vibration offers a potential alternative modality for transcutaneous auricular vagus nerve stimulation (taVNS). However, mechanisms of action are not well-defined. The goal of this pilot study was to evaluate the potential of vibrotactile stimulation of the outer ear as a method for activating central brain regions similarly to established vagal nerve stimulation methods. Seven patients with intractable epilepsy undergoing stereotactic electroencephalography (sEEG) monitoring participated in the study. Vibrotactile taVNS was administered across five vibration frequencies (2, 6, 12, 20, and 40 Hz) following a randomized stimulation pattern with 30 trials per frequency. Spectral coherence during stimulation was analyzed across theta …


First Successful Ovarian Cortex Allotransplant To A Turner Syndrome Patient Requiring Immunosuppression: Wide Implications, Sherman J Silber, Sierra Goldsmith, Benjamin Rubinoff, Eduardo Kelly, Rowena Delos Santos, Anibal Melo, Daniel Brennan Jan 2025

First Successful Ovarian Cortex Allotransplant To A Turner Syndrome Patient Requiring Immunosuppression: Wide Implications, Sherman J Silber, Sierra Goldsmith, Benjamin Rubinoff, Eduardo Kelly, Rowena Delos Santos, Anibal Melo, Daniel Brennan

2020-Current year OA Pubs

OBJECTIVE: To determine whether we can safely and successfully transplant an ovary tissue allograft from a nonidentical donor to her Turner syndrome sister.

DESIGN: Transplantation of cryopreserved ovary tissue, as well as fresh transplantation of ovarian tissue between identical twins, is now well established with numerous reported successful cases. However, there have not yet been any ovary transplants between nonidentical women requiring immunosuppression (ovary allotransplant). This could be a much more common indication for ovary tissue transplantation if safe and reliable immunosuppression were available.

PATIENT(S): A 20-year-old amenorrheic woman with nonmosaic 45-XO Turner syndrome requested ovary tissue transplantation from her …


Persistent Advanced Hiv Disease In Rural Kwazulu-Natal, South Africa: Trends, Characteristics, And The Urgent Need For Targeted Interventions, Marcel K. Kitenge, Geoffrey Fatti, Ingrid Eshun-Wilson, Peter S. Nyasulu Jan 2025

Persistent Advanced Hiv Disease In Rural Kwazulu-Natal, South Africa: Trends, Characteristics, And The Urgent Need For Targeted Interventions, Marcel K. Kitenge, Geoffrey Fatti, Ingrid Eshun-Wilson, Peter S. Nyasulu

2020-Current year OA Pubs

BACKGROUND: Advanced HIV disease (AHD) remains a persistent public health challenge. Data regarding the burden, characteristics and predictors of AHD is scarce specifically for rural settings of sub-Saharan Africa. This study aimed to describe trends in annual CD4 count distribution and to characterise adult persons living with HIV (PLWH) on ART who have AHD in rural KwaZulu-Natal, South Africa.

METHODS: A retrospective cohort design of annual CD4 count distribution was conducted among antiretroviral therapy (ART) patients aged 18 years and older. We used routinely collected data from adults receiving ART in Eshowe and Mbongolwane areas in KwaZulu-Natal, South Africa, between …


Revisiting Abdominal Wall "Morbidity" Of The Extensile Anterolateral Approach To The Thoracolumbar Spine, Alekos A Theologis, Andrew P Collins, Kanwar Parhar, Munish C Gupta Jan 2025

Revisiting Abdominal Wall "Morbidity" Of The Extensile Anterolateral Approach To The Thoracolumbar Spine, Alekos A Theologis, Andrew P Collins, Kanwar Parhar, Munish C Gupta

2020-Current year OA Pubs

PURPOSE: To assess patients' perceptions of their abdominal wall following extensile anterolateral approaches to the thoracolumbar spine for adult spinal deformity (ASD) using validated questionnaires.

METHODS: Adults who underwent anterior-posterior thoracolumbar spinal operations to the pelvis for ASD in which the anterior fusion was performed through an extensile anterolateral approach were reviewed. Three questionnaires were administered at least 1 year following surgery and included The Abdominal Core Health Quality Collaborative Survey (AHS-QC), The Patient Scar Assessment Scale (PSAS), and The Anterior Abdominal Incision Questionnaire (AAIQ).

RESULTS: Fifty-one patients (80.4% female, median age 65 years) were included. Average follow-up was 2.8 …


Novel Loci For Triglyceride/Hdl-C Ratio Longitudinal Change Among Subjects Without T2d, Lihua Wang, Siyu Wang, Jason A Anema, Vaha A Moghaddam, Yanli Lu, Shiow Lin, E Warwick Daw, Allison L Kuipers, Iva Miljkovic, Michael Brent, Gary J Patti, Bharat Thygarajan, Joseph M Zmuda, Michael A Province, Ping An Jan 2025

Novel Loci For Triglyceride/Hdl-C Ratio Longitudinal Change Among Subjects Without T2d, Lihua Wang, Siyu Wang, Jason A Anema, Vaha A Moghaddam, Yanli Lu, Shiow Lin, E Warwick Daw, Allison L Kuipers, Iva Miljkovic, Michael Brent, Gary J Patti, Bharat Thygarajan, Joseph M Zmuda, Michael A Province, Ping An

2020-Current year OA Pubs

Triglyceride (TG)/HDL-C ratio (THR) is a surrogate predictor of hyperinsulinemia. To identify novel genetic loci for THR change over time (ΔTHR), we conducted genome-wide association study (GWAS) and genome-wide linkage scan (GWLS) among nondiabetic Europeans from the Long Life Family Study (n = 1,384). Subjects with diabetes or on dyslipidemia medications were excluded. ΔTHR was derived using growth curve modeling and adjusted for age, sex, field centers, and principal components. GWAS used a linear mixed model accounting for familial relatedness. GWLS employed haplotype-based identity-by-descent estimation with 0.5 cM average spacing. Heritability of ΔTHR was moderate (46%). Our GWAS identified a …


Dfcp1 Is A Regulator Of Starvation-Driven Atgl-Mediated Lipid Droplet Lipolysis, Victoria A Ismail, Meg Schuetz, Zak N Baker, Jean A Castillo-Badillo, Teri V Naismith, David J Pagliarini, David J Kast Jan 2025

Dfcp1 Is A Regulator Of Starvation-Driven Atgl-Mediated Lipid Droplet Lipolysis, Victoria A Ismail, Meg Schuetz, Zak N Baker, Jean A Castillo-Badillo, Teri V Naismith, David J Pagliarini, David J Kast

2020-Current year OA Pubs

Lipid droplets (LDs) are transient lipid storage organelles that can be readily tapped to resupply cells with energy or lipid building blocks, and therefore play a central role in cellular metabolism. Double FYVE Domain Containing Protein 1 (DFCP1/ZFYVE1) has emerged as a key regulator of LD metabolism, where the nucleotide-dependent accumulation of DFCP1 on LDs influences their size, number, and dynamics. Here we show that DFCP1 regulates lipid metabolism by directly modulating the activity of Adipose Triglyceride Lipase (ATGL/PNPLA2), the rate-limiting lipase driving the catabolism of LDs. We show through pharmacological inhibition of key enzymes associated with LD metabolism that …


The Cross-Sectional Association Between State-Level Public Health Funding Per Capita And Physical Health Among Adults In The United States, Stephen Hunter, Sze Y. Liu, Daniel M. Cook, Kia L. Davis, Brendan T. Smith, Roman Pabayo Jan 2025

The Cross-Sectional Association Between State-Level Public Health Funding Per Capita And Physical Health Among Adults In The United States, Stephen Hunter, Sze Y. Liu, Daniel M. Cook, Kia L. Davis, Brendan T. Smith, Roman Pabayo

2020-Current year OA Pubs

OBJECTIVES: This study examined the association between state-level public health funding per capita and the odds of poor physical health.

STUDY DESIGN: Cross-sectional.

METHODS: Data from the 2018 Behavioral Risk Factor Surveillance System (BRFSS) were used. Participants' self-reported physical health was reported using the CDC Healthy Days Core Module. State-level public health funding per capita was obtained from the State Health Access Data Assistance Center website. Multilevel logistic regression was used to adjust for self-reported individual-level characteristics and state-level characteristics from the 2018 American Community Survey. We also tested whether household income or education attainment moderated any observed associations.

RESULTS: …


Endogenous Self-Peptides Guard Immune Privilege Of The Central Nervous System, Min Woo Kim, Wenqing Gao, Cheryl F Lichti, Xingxing Gu, Taitea Dykstra, Jay Cao, Igor Smirnov, Pavle Boskovic, Denis Kleverov, Andrea F M Salvador, Antoine Drieu, Kyungdeok Kim, Susan Blackburn, Clair Crewe, Maxim N Artyomov, Emil R Unanue, Jonathan Kipnis Jan 2025

Endogenous Self-Peptides Guard Immune Privilege Of The Central Nervous System, Min Woo Kim, Wenqing Gao, Cheryl F Lichti, Xingxing Gu, Taitea Dykstra, Jay Cao, Igor Smirnov, Pavle Boskovic, Denis Kleverov, Andrea F M Salvador, Antoine Drieu, Kyungdeok Kim, Susan Blackburn, Clair Crewe, Maxim N Artyomov, Emil R Unanue, Jonathan Kipnis

2020-Current year OA Pubs

Despite the presence of strategically positioned anatomical barriers designed to protect the central nervous system (CNS), it is not entirely isolated from the immune system


Menin Inhibition With Revumenib For Kmt2a-Rearranged Relapsed Or Refractory Acute Leukemia (Augment-101), Ghayas C Issa, John Dipersio, Et Al. Jan 2025

Menin Inhibition With Revumenib For Kmt2a-Rearranged Relapsed Or Refractory Acute Leukemia (Augment-101), Ghayas C Issa, John Dipersio, Et Al.

2020-Current year OA Pubs

PURPOSE: Revumenib, an oral, small molecule inhibitor of the menin-lysine methyltransferase 2A (KMT2A) interaction, showed promising efficacy and safety in a phase I study of heavily pretreated patients with

METHODS: AUGMENT-101 is a phase I/II, open-label, dose-escalation and expansion study of revumenib conducted across 22 clinical sites in five countries (ClinicalTrials.gov identifier: NCT04065399). We report results from the phase II, registration-enabling portion. Individuals age ≥30 days with R/R

RESULTS: From October 1, 2021, to July 24, 2023, N = 94 patients (median [range] age, 37 [1.3-75] years) were treated. Grade ≥3 adverse events included febrile neutropenia (37.2%), differentiation syndrome (16.0%), …


Recombinant Human Alpha-N-Acetylglucosamine-6-Sulfatase Delivered To Sanfilippo D Mice With Repeated Intracerebroventricular Injections Corrects Cns Pathology, Grant L. Austin, Feng Wang, Steven Q. Le, Alexander Sorensen, Shan Li, Lai C. Foong, Srikanth Singamsetty, Jill Wood, Tsui-Fen Chou, Patricia I. Dickson Jan 2025

Recombinant Human Alpha-N-Acetylglucosamine-6-Sulfatase Delivered To Sanfilippo D Mice With Repeated Intracerebroventricular Injections Corrects Cns Pathology, Grant L. Austin, Feng Wang, Steven Q. Le, Alexander Sorensen, Shan Li, Lai C. Foong, Srikanth Singamsetty, Jill Wood, Tsui-Fen Chou, Patricia I. Dickson

2020-Current year OA Pubs

Mucopolysaccharidosis type IIID (MPS IIID; Sanfilippo D) is caused by biallelic pathogenic variants in N-acetylglucosamine-6-sulfatase (GNS), which participates in catabolism of heparan sulfate (HS) glycosaminoglycans. Characterization of MPS IIID disease at a cellular level has not been robustly achieved. We used unbiased quantitative proteomics to establish a cellular phenotype for MPS IIID mice. Recombinant human GNS (rhGNS), a variant of which previously demonstrated single dose efficacy in MPS IIID human fibroblasts and in MPS IIID neonatal mice, was used to establish a repeat dosing schedule to treat MPS IIID mice. Adult Gns KO mice or heterozygous carriers were treated via …


Thalamic And Visual Network Dysfunction Relates To Tremor Response In Thalamic Deep Brain Stimulation, Aimee E Morris, Babatunde Adeyemo, Meghan C Campbell, Abraham Z Snyder, Joel S Perlmutter, Jonathan W Mink, Scott A Norris Jan 2025

Thalamic And Visual Network Dysfunction Relates To Tremor Response In Thalamic Deep Brain Stimulation, Aimee E Morris, Babatunde Adeyemo, Meghan C Campbell, Abraham Z Snyder, Joel S Perlmutter, Jonathan W Mink, Scott A Norris

2020-Current year OA Pubs

BACKGROUND: Essential tremor (ET) is the most common movement disorder in adults, but its pathogenesis is incompletely understood. Deep brain stimulation of the ventral intermediate thalamic nucleus (VIM DBS) provides effective treatment for medically-refractory cases. We aimed to determine how pre-surgical resting-state functional connectivity (FC) in medically-refractory ET relates to VIM DBS clinical response.

METHODS: We analyzed resting-state FC MRI in 21 participants with medically-refractory ET who subsequently underwent VIM DBS and 34 matched controls. We applied rigorous quality assurance to minimize motion artifact. Whole-brain correlation matrices were computed across 300 cortical, subcortical, and cerebellar regions and compared across groups …


Anticodon-Edited Trna Enables Translational Readthrough Of Col4a5 Premature Termination Codons, Kohei Omachi, Joseph J. Porter, John D. Lueck, Jeffrey H. Miner Jan 2025

Anticodon-Edited Trna Enables Translational Readthrough Of Col4a5 Premature Termination Codons, Kohei Omachi, Joseph J. Porter, John D. Lueck, Jeffrey H. Miner

2020-Current year OA Pubs

Alport syndrome is caused by variants in COL4A3, COL4A4, or COL4A5, which encode the α3α4α5 chains of type IV collagen. These variants result in defects in the glomerular basement membrane (GBM) and impaired kidney function. Nonsense variants result in truncated proteins lacking the NC1 domain, thereby preventing proper GBM assembly and function and causing the most severe forms of the disease. Restoring full-length protein expression represents a potential therapeutic strategy for Alport syndrome and related disorders. Anticodon-edited transfer RNAs (ACE-tRNAs), which promote premature termination codon (PTC) readthrough, have shown promise in diseases such as cystic fibrosis, but their application in …


Risk Factors For Development Of Stroke In Patients With Continuous-Flow Left Ventricular Assist Device Support As Destination Therapy, Ioana B Florea, Nadia H Bakir, Meghan O Kelly, Joel D Schilling, Gregory A Ewald, Akinobu Itoh, Marc R Moon, Spencer J Melby, Ralph J Damiano, Kunal D Kotkar, Muhammad F Masood Jan 2025

Risk Factors For Development Of Stroke In Patients With Continuous-Flow Left Ventricular Assist Device Support As Destination Therapy, Ioana B Florea, Nadia H Bakir, Meghan O Kelly, Joel D Schilling, Gregory A Ewald, Akinobu Itoh, Marc R Moon, Spencer J Melby, Ralph J Damiano, Kunal D Kotkar, Muhammad F Masood

2020-Current year OA Pubs

BACKGROUND: Continuous-flow left ventricular assist devices (LVADs) are increasingly used as destination therapy. Although postimplantation stroke rates have been described in the context of bridge-to-transplant or mixed cohorts, stroke development is not well evaluated in patients who receive continuous-flow LVAD with a destination therapy indication. This report characterizes the stroke profile of a modern institutional cohort of patients undergoing destination therapy and evaluates their risk factors for stroke onset.

METHODS: Patients implanted with continuous-flow LVAD as destination therapy at the reporting institution between January 2010 and June 2020 were retrospectively reviewed and analyzed. Stroke was defined as any neurologic deficit …


Colorectal Cancer Incidence Trends In Younger Versus Older Adults: An Analysis Of Population-Based Cancer Registry Data, Hyuna Sung, Rebecca L Siegel, Mathieu Laversanne, Chenxi Jiang, Eileen Morgan, Mariam Zahwe, Yin Cao, Freddie Bray, Ahmedin Jemal Jan 2025

Colorectal Cancer Incidence Trends In Younger Versus Older Adults: An Analysis Of Population-Based Cancer Registry Data, Hyuna Sung, Rebecca L Siegel, Mathieu Laversanne, Chenxi Jiang, Eileen Morgan, Mariam Zahwe, Yin Cao, Freddie Bray, Ahmedin Jemal

2020-Current year OA Pubs

BACKGROUND: Previous studies have shown that colorectal cancer incidence is increasing among younger adults (aged < 50 years) in multiple high-income western countries in contrast with stabilising or decreasing trends in incidence in older adults (aged ≥50 years). This study aimed to investigate contemporary colorectal cancer incidence trends in younger adults versus older adults.

METHODS: Colorectal cancer incidence data, including year of diagnosis, sex, and 5-year age group for 50 countries and territories, were extracted from the WHO-International Agency for Research on Cancer Cancer Incidence in Five Continents Plus database. The Human Development Index 2022 was retrieved from the United Nations Development Programme and grouped into very high (>0·80), high (0·70-0·79), medium (0·55-0·69), and low (< 0·55) categories. Age-standardised incidence rates (ASR) per 100 000 person-years of early-onset (diagnosed between ages 25 to 49 years) and late-onset (diagnosed between ages 50 to 74 years) colorectal cancer (ICD 10th revision, C18-20), diagnosed between 1943-2003 and 2015-17, were calculated using the direct method and Segi-Doll world standard population). The primary study objective was to examine contemporary colorectal cancer incidence trends in younger adults versus older adults using data until 2017 from 50 countries and territories. Temporal trends were visualised and quantified with joinpoint regression, stratified by age at diagnosis (25-49 years or 50-74 years). Average annual percentage changes (AAPC) were estimated.

FINDINGS: In the most recent 5 years (2013-17 for all countries analysed, except for Japan [2011-15], Spain [2012-16], and Costa Rica [2012-16]), …


Surgeon Interpretation Of Patient-Reported Outcome Measures In Upper Extremity Osteoarthritis, Rick S. Looman, Koen Oude Nijhuis, Sina Ramtin, David Ring, Daniel A. London, Ryan Calfee, Niels Brinkman, Science Of Variation Group Jan 2025

Surgeon Interpretation Of Patient-Reported Outcome Measures In Upper Extremity Osteoarthritis, Rick S. Looman, Koen Oude Nijhuis, Sina Ramtin, David Ring, Daniel A. London, Ryan Calfee, Niels Brinkman, Science Of Variation Group

2020-Current year OA Pubs

PURPOSE: Measures that quantify levels of pain intensity, incapability, symptoms of distress, and unhelpful thinking were designed as research tools. We studied how surgeons interpret and act on these scores in the care of individual patients.

METHODS: In an online experiment, 67 upper limb specialists from the Science of Variation Group reviewed 10 fictious patient scenarios of trapeziometacarpal, wrist and elbow osteoarthritis (OA) and randomized elements of radiographic severity, levels of discomfort and incapability, deprivation index score (social health), and levels of distress and unhelpful thinking (mental health). Multilevel mixed-effects linear regression identified patient factors associated with surgeon concern, enthusiasm …


Ethical Implications Of Neurotechnology In Industry-Academia Partnerships: Insights From Patient And Research Participant Interviews, Meredith V. Parsons, Maya Skolnik, Judith Mwobobia, Erin D Solomon, James M. Dubois, Tristan Mcintosh Jan 2025

Ethical Implications Of Neurotechnology In Industry-Academia Partnerships: Insights From Patient And Research Participant Interviews, Meredith V. Parsons, Maya Skolnik, Judith Mwobobia, Erin D Solomon, James M. Dubois, Tristan Mcintosh

2020-Current year OA Pubs

BACKGROUND: Neurotechnologies often advance through industry-academia (IA) partnerships and offer insight into brain and nervous system functions, bringing improved diagnosis and treatment options to patients. Both neurotechnology and IA partnerships pose ethical challenges that can impact research participation experiences, patient treatment, and health outcomes.

METHODS: Investigators conducted interviews with 16 patients who used neurotechnology devices in therapeutic or research settings. Interviews explored participants' experiences using neurotechnology, perspectives on IA partnerships, preferences for neural data use and long-term care, and advice for future neurotechnology device users. Data were analyzed using inductive thematic analysis.

RESULTS: Participants were generally supportive of IA partnerships. …


Clinical Pharmacology And Medication Safety: A Remote Learning Elective Designed For Senior Medical Students, Elizabeth B. Graham, William T. Wightkin, Curt R. Bay, Uzoma S. Ikonne Jan 2025

Clinical Pharmacology And Medication Safety: A Remote Learning Elective Designed For Senior Medical Students, Elizabeth B. Graham, William T. Wightkin, Curt R. Bay, Uzoma S. Ikonne

Department of Biomedical and Translational Sciences Faculty Publications

In the United States, medical educators have expressed concern that an integrated and condensed pre-clerkship curriculum risks leaving gaps in student pharmacology knowledge. This study evaluates a remote-learning clinical pharmacology elective that integrates fundamental pharmacology concepts and principles of medication safety and explores how the course impacts senior medical students' self-reported readiness for residency. Clinical Pharmacology and Medication Safety is a remote elective course for senior medical students. The course integrates a review of basic pharmacology with clinical pharmacology topics through case-based learning sessions led by clinical pharmacists and physicians. To evaluate the elective's effectiveness, students in the fall and …


Implementing A Chatbot To Promote Hereditary Breast & Ovarian Cancer Genetic Screening In Women's Health: Identifying Barriers And Facilitators To Screening Adoption, Easton N. Wollney, Shireen Madani Sims, Luisel J. Ricks-Santi, Elizabeth Eddy, Daniel Wiesman, Carla L. Fisher Jan 2025

Implementing A Chatbot To Promote Hereditary Breast & Ovarian Cancer Genetic Screening In Women's Health: Identifying Barriers And Facilitators To Screening Adoption, Easton N. Wollney, Shireen Madani Sims, Luisel J. Ricks-Santi, Elizabeth Eddy, Daniel Wiesman, Carla L. Fisher

Department of Biomedical and Translational Sciences Faculty Publications

Background

To promote genetic screening among women at risk for hereditary breast and ovarian cancer (HBOC), the American College of Obstetricians and Gynecologists recommends that risk assessment be integrated into practice. Chatbots like the Genetic Information Assistant (Gia®) are increasingly implemented to expand access to hereditary genetic screening. Factors that impact chatbot implementation for HBOC risk screening and women's uptake are not fully realized. To refine implementation strategies prior to full scale implementation, we sought to identify women's perceived facilitators/barriers to adopting Gia screening in a rural population within a large healthcare system in the southern United States.

Methods

We …


Obesity, Metabolic Health, And Diabetic Complications In People With Type 1 Diabetes., Yuanjie Mao, Jen-Tzer Gau, Ning Jiang Jan 2025

Obesity, Metabolic Health, And Diabetic Complications In People With Type 1 Diabetes., Yuanjie Mao, Jen-Tzer Gau, Ning Jiang

Ambulatory and Primary Care Articles

AIM: The concept of metabolically healthy obesity (MHO) has not been studied in type 1 diabetes (T1D). By analysing datasets from the DCCT/EDIC study, we compared the development of diabetic complications by obesity and metabolic health over 30 years of follow up.

MATERIALS AND METHODS: Insulin resistance was calculated by estimated glucose disposal rate (eGDR). The participants (n = 1127) were then divided into four groups based on time-weighted mean body mass index and mean eGDR: metabolically healthy non-obesity (MHN, n = 874), metabolically unhealthy non-obesity (MUN, n = 66), MHO (n = 146) and metabolically unhealthy obesity (MUO, n …