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2025

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Full-Text Articles in Medicine and Health Sciences

Artificial Intelligence For Optical Coherence Tomography In Glaucoma, Mak B. Djulbegovic, Henry Bair, David J. Taylor Gonzalez, Hiroshi Ishikawa, Gadi Wollstein, Joel S. Schuman Jan 2025

Artificial Intelligence For Optical Coherence Tomography In Glaucoma, Mak B. Djulbegovic, Henry Bair, David J. Taylor Gonzalez, Hiroshi Ishikawa, Gadi Wollstein, Joel S. Schuman

Wills Eye Hospital Papers

PURPOSE: The integration of artificial intelligence (AI), particularly deep learning (DL), with optical coherence tomography (OCT) offers significant opportunities in the diagnosis and management of glaucoma. This article explores the application of various DL models in enhancing OCT capabilities and addresses the challenges associated with their clinical implementation.

METHODS: A review of articles utilizing DL models was conducted, including convolutional neural networks (CNNs), recurrent neural networks (RNNs), generative adversarial networks (GANs), autoencoders, and large language models (LLMs). Key developments and practical applications of these models in OCT image analysis were emphasized, particularly in the context of enhancing image quality, glaucoma …


What Women Intercollegiate Coaches Say: Decision-Making Factors When Navigating Career Choices, Courtney Boucher, Nicole M. Lavoi Jan 2025

What Women Intercollegiate Coaches Say: Decision-Making Factors When Navigating Career Choices, Courtney Boucher, Nicole M. Lavoi

International Journal of Physical Activity and Health

To address misconceptions about the lack of women in sport coaching, factors influencing intercollegiate women coaches' career decisions, including their choices to leave positions, apply for new ones, and accept or deny job offers were explored. Utilizing a multi-level analysis underpinned by critical feminist theory, a comprehensive understanding of the systemic and structural barriers women coaches faced, as well as the strategies they employed to navigate their careers were illuminated. Key findings revealed that unequal pay, lack of administrative support, insufficient resources, and pervasive gender biases significantly impacted women's career choices. The importance of supportive workplace environments, flexible working conditions, …


A Randomized, Placebo-Controlled, Cross-Over Trial Of Ketamine In Rett Syndrome, Kathleen Campbell, Jeffrey L Neul, David N Lieberman, Elizabeth Berry-Kravis, Tim A Benke, Cary Fu, Alan Percy, Bernhard Suter, David Morris, Randall L Carpenter, Eric D Marsh, Jana Von Hehn Jan 2025

A Randomized, Placebo-Controlled, Cross-Over Trial Of Ketamine In Rett Syndrome, Kathleen Campbell, Jeffrey L Neul, David N Lieberman, Elizabeth Berry-Kravis, Tim A Benke, Cary Fu, Alan Percy, Bernhard Suter, David Morris, Randall L Carpenter, Eric D Marsh, Jana Von Hehn

Faculty, Staff and Students Publications

BACKGROUND: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.

DESIGN: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.

METHODS: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite …


Co-Option Of Mitochondrial Nucleic Acid-Sensing Pathways By Hsv-1 Ul12.5 For Reactivation From Latent Infection, Patryk A. Krakowiak, Matthew E. Flores, Sean R. Cuddy, Abigail L. Whitford, Sara A. Dochnal, Aleksandra Babnis, Tsuyoshi Miyake, Marco Tigano, Daniel A. Engel, Anna R. Cliffe Jan 2025

Co-Option Of Mitochondrial Nucleic Acid-Sensing Pathways By Hsv-1 Ul12.5 For Reactivation From Latent Infection, Patryk A. Krakowiak, Matthew E. Flores, Sean R. Cuddy, Abigail L. Whitford, Sara A. Dochnal, Aleksandra Babnis, Tsuyoshi Miyake, Marco Tigano, Daniel A. Engel, Anna R. Cliffe

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Although viruses subvert innate immune pathways for their replication, there is evidence they can also co-opt antiviral responses for their benefit. The ubiquitous human pathogen, Herpes simplex virus-1 (HSV-1), encodes a protein (UL12.5) that induces the release of mitochondrial nucleic acid into the cytosol, which activates immune-sensing pathways and reduces productive replication in nonneuronal cells. HSV-1 establishes latency in neurons and can reactivate to cause disease. We found that UL12.5 is required for HSV-1 reactivation in neurons and acts to directly promote viral lytic gene expression during initial exit from latency. Further, the direct activation of innate immune-sensing pathways triggered …


Social, Racial, And Economic Disparities Affecting Outcomes Of Hypertensive Adolescents, Kanya Singhapakdi, Amelia Haydel, Marla Johnston, Shengping Yang, Tamara Bradford, Dedrick Moulton, Thomas R. Kimball Jan 2025

Social, Racial, And Economic Disparities Affecting Outcomes Of Hypertensive Adolescents, Kanya Singhapakdi, Amelia Haydel, Marla Johnston, Shengping Yang, Tamara Bradford, Dedrick Moulton, Thomas R. Kimball

School of Medicine Faculty Publications

Essential hypertension is one of the most common conditions managed in pediatric cardiology and can result in lasting deleterious effects on the cardiovascular system. Pediatric hypertension is so prevalent in the United States that it is often referred to as a public health challenge. Social determinants of health (SDH) are the cultural, economic, educational, healthcare accessibility, and political influences in the environment in which an individual is born or lives, all of which can affect that individual's overall health. This study investigated the impact of social determinants such as rurality, food insecurity, transportation challenges, minority status, income, and race on …


The Caitlin Clark Effect: Illuminating Women’S Sport History, Shelley Lucas Jan 2025

The Caitlin Clark Effect: Illuminating Women’S Sport History, Shelley Lucas

International Journal of Physical Activity and Health

The Caitlin Clark Effect is a term that describes the impact of the University of Iowa basketball player on the popularity of women’s basketball, which occurred in conjunction with Clark’s record-breaking performances in 2023 and 2024, as well as the Iowa team’s successes in the NCAA championship tournament. While the Caitlin Clark Effect is associated with intense media attention, ticket sales, and viewership, it also illuminates significant and lesser-known aspects of women’s sport history, specifically media coverage, the Association of Intercollegiate Athletics for Women (AIAW), and the state of Iowa’s unique basketball heritage and ‘6-on-6’ basketball rules. The purpose of …


Benefits, Challenges, And Strategies For Increasing Women Coaches In Elite Sport: The Trail To Gold (T2g) Initiative In U.S. Cross-Country Skiing, Anika Anna Angriman, Lynda B. Ransdell, Shelley Lucas, Nicole Lavoi Jan 2025

Benefits, Challenges, And Strategies For Increasing Women Coaches In Elite Sport: The Trail To Gold (T2g) Initiative In U.S. Cross-Country Skiing, Anika Anna Angriman, Lynda B. Ransdell, Shelley Lucas, Nicole Lavoi

International Journal of Physical Activity and Health

Despite tremendous growth in sport participation of girls and women following Title IX in 1972, women’s participation as sport coaches did not follow the same trajectory. In fact, women remain significantly underrepresented in sport coaching. Research highlights ongoing barriers within the sport industry's patriarchal structure, and although strategies have been proposed to improve women’s representation, the lack of progress over the past two decades indicates limited effectiveness. A better approach is essential to address this issue across individual, interpersonal, organizational, and societal levels. The purpose of this study is to interview participants within the U.S. cross-country skiing program, Trail to …


Improper Fitting Personal Protective Clothing And Subsequent Countermeasures For Physical Conditioning In Female Firefighters: A Narrative Review, Katie Sell, Mark Abel, J. Jay Dawes, Megan Thompson, Annette Zapp, Ofra Pottorf, Lilly Bernardi, James Prendergast Jan 2025

Improper Fitting Personal Protective Clothing And Subsequent Countermeasures For Physical Conditioning In Female Firefighters: A Narrative Review, Katie Sell, Mark Abel, J. Jay Dawes, Megan Thompson, Annette Zapp, Ofra Pottorf, Lilly Bernardi, James Prendergast

International Journal of Physical Activity and Health

The purpose of this paper was to 1) use an explorative literature overview to identify issues related to ill-fitting clothing and occupational gear for female firefighters, and 2) use an inductive approach to develop generalizable recommendations for exercise professionals to utilize by identifying significant themes in published peer reviewed articles related to movement and injury risk. Research, including both qualitative and quantitative approaches, has shown that the majority of current personal protective clothing (PPC) and operational gear was developed to fit a limited array of male physiques. Consequently, the improper fit of PPC and gear has presented numerous concerns that, …


Impact Of A Light Volleyball Intervention Among Older Chinese Adult Women, Ka-Man Carman Leung, Paul Lee, Wing Sze Alice Lai, Yanan Zhao, Lynda Ransdell Jan 2025

Impact Of A Light Volleyball Intervention Among Older Chinese Adult Women, Ka-Man Carman Leung, Paul Lee, Wing Sze Alice Lai, Yanan Zhao, Lynda Ransdell

International Journal of Physical Activity and Health

Modified sports offer a strategic approach to promoting health in older adults. Light volleyball, which uses a larger, lighter ball than traditional volleyball, is more accessible for this population. This study investigated the effects of a 16-week light volleyball program on the functional fitness of older adults in Hong Kong. A total of 275 participants aged 60 years or older were recruited and randomly assigned to three groups: a light volleyball intervention group, a Tai Chi group, and a control group. Functional fitness was assessed at the pretest, posttest, and 6-month follow-up. Results revealed that the light volleyball group exhibited …


Prevalence Of Autoimmune Diseases In Patients Treated With Immune Checkpoint Inhibitors: An Epidemiological Study Using A Global Network Of Health Care Organizations, Pushti Khandwala, Devashish Desai, Arthur Lau Jan 2025

Prevalence Of Autoimmune Diseases In Patients Treated With Immune Checkpoint Inhibitors: An Epidemiological Study Using A Global Network Of Health Care Organizations, Pushti Khandwala, Devashish Desai, Arthur Lau

Einstein Health Papers

OBJECTIVE: Evaluate prevalence of new onset autoimmune conditions (ACs) after commencement of immune checkpoint inhibitors (ICIs).

METHODS: This retrospective observational study was done using TriNetX. Patients with neoplasm for which ICIs were approved were stratified into two groups based on ICI use. Multivariate Cox proportional hazard models and Kaplan Meier method were used to assess risk of developing ACs among the groups. Subgroup analysis was done to evaluate risk of ACs in patients receiving cytotoxic T-lymphocyte-associated protein 4 inhibitor (CTLA4i) versus program cell death protein 1 inhibitor (PD1i) and program death ligand 1 inhibitor (PDL1i) inhibitors and combination treatment (CT) …


Use Of Multi-Modal Non-Contrast Mri To Predict Functional Outcomes After Stroke: A Study Using Dp-Pcasl, Dti, Noddi, And Map Mri, Julia Diamandi, Christian Raimondo, Keenan Piper, Joanna Roy, Stephanie Serva, Mahdi Alizadeh, Adam Flanders, Stavropoula Tjoumakaris, Michael Gooch, Pascal Jabbour, Robert Rosenwasswer, Nikolaos Mouchtouris Jan 2025

Use Of Multi-Modal Non-Contrast Mri To Predict Functional Outcomes After Stroke: A Study Using Dp-Pcasl, Dti, Noddi, And Map Mri, Julia Diamandi, Christian Raimondo, Keenan Piper, Joanna Roy, Stephanie Serva, Mahdi Alizadeh, Adam Flanders, Stavropoula Tjoumakaris, Michael Gooch, Pascal Jabbour, Robert Rosenwasswer, Nikolaos Mouchtouris

Department of Neurosurgery Faculty Papers

PURPOSE: This study aims to assess whether water exchange rate (kw), a surrogate for blood-brain barrier (BBB) permeability, is associated with functional outcomes in patients with acute ischemic stroke (AIS).

METHODS: We studied 22 AIS patients enrolled from 1/2022 to 4/2024 who underwent multi-modal non-contrast imaging on a 3.0-Tesla scanner, including DP-pCASL, DTI, NODDI and MAP imaging. For each parametric map, the intensity and standard deviation (SD) were calculated for the infarcted region. The diffusion maps included were b0, Fractional Anisotropy (FA), Mean Diffusivity (MD), Intra-cellular Volume Fraction (ICVF), Free Water Fraction (FWF), and Orientation Dispersion Index (ODI), …


Single-Chain Variable Fragments: Targeting Snake Venom Phospholipase A2 And Serine Protease, Ying Jia, Ariane Garcia, Elizabeth Reyes Jan 2025

Single-Chain Variable Fragments: Targeting Snake Venom Phospholipase A2 And Serine Protease, Ying Jia, Ariane Garcia, Elizabeth Reyes

School of Integrative Biological & Chemical Sciences Faculty Publications

Snakebite is a critical global public health issue, causing substantial mortality and morbidity, particularly in tropical and subtropical regions. The development of innovative antivenoms targeting snake venom toxins is therefore of paramount importance. In this study, we adopted an epitope-directed approach to design three degenerate 15-mer peptides based on amino acid sequence alignments of snake venom phospholipase A2s (PLA2s) and snake venom serine proteases (SVSPs) from snake (Crotalus atrox). By leveraging their immunogenic and inhibitory profiles, these peptides were specifically designed to target the Asp49 and Lys49 variants of PLA2 and SVSP toxins. Groups of five mice were immunized with …


The Quic-Sp: A Spanish Language Tool Assessing Unpredictability In Early Life Is Linked To Physical And Mental Health, Sabrina R. Liu, Natasha A. Bailey, Sara Romero-González, Amy Moors, Belinda Campos, Elysia P. Davis, Laura M. Glynn Jan 2025

The Quic-Sp: A Spanish Language Tool Assessing Unpredictability In Early Life Is Linked To Physical And Mental Health, Sabrina R. Liu, Natasha A. Bailey, Sara Romero-González, Amy Moors, Belinda Campos, Elysia P. Davis, Laura M. Glynn

Psychology Faculty Articles and Research

Accumulating evidence indicates that unpredictable signals in early life represent a unique form of adverse childhood experiences (ACEs) associated with disrupted neurodevelopmental trajectories in children and adolescents. The Questionnaire of Unpredictability in Childhood (QUIC) was developed to assess early life unpredictability, encompassing social, emotional, and physical unpredictability in a child’s environment, and has been validated in three independent cohorts. However, the importance of identifying ACEs in diverse populations, including non-English speaking groups, necessitates translation of the QUIC. The current study aims to translate and validate a Spanish language version of the QUIC (QUIC-SP) and assess its associations with mental and …


Ethnic Disparities In Hba1c And Hypoglycemia Among Youth With Type 1 Diabetes: Beyond Access To Technology, Social Deprivation And Mean Blood Glucose, J. Pemberton, Zhide Fang, Stuart Chalew, S. Uday Jan 2025

Ethnic Disparities In Hba1c And Hypoglycemia Among Youth With Type 1 Diabetes: Beyond Access To Technology, Social Deprivation And Mean Blood Glucose, J. Pemberton, Zhide Fang, Stuart Chalew, S. Uday

School of Public Health Faculty Publications

Introduction The UK national pediatric diabetes audit reports higher HbA1c for children and young people (CYP) with type 1 diabetes (T1D) of Black ethnicity compared with White counterparts. This is presumably related to higher mean blood glucose (MBG) due to lower socioeconomic status (SES) and less access to technology. We aimed to determine if HbA1c ethnic disparity persists after accounting for the above variables. Research design and methods A retrospective analysis of participants who received structured education in continuous glucose monitoring (CGM) use was conducted at a tertiary center. HbA1c was paired with glucose metrics from 90-day CGM data. The …


Spatial Transcriptome Reveals Histology-Correlated Immune Signature Learnt By Deep Learning Attention Mechanism On H&E-Stained Images For Ovarian Cancer Prognosis, Chun Wai Ng, Kwong-Kwok Wong, Barrett C Lawson, Sammy Ferri-Borgogno, Samuel C Mok Jan 2025

Spatial Transcriptome Reveals Histology-Correlated Immune Signature Learnt By Deep Learning Attention Mechanism On H&E-Stained Images For Ovarian Cancer Prognosis, Chun Wai Ng, Kwong-Kwok Wong, Barrett C Lawson, Sammy Ferri-Borgogno, Samuel C Mok

Faculty, Staff and Student Publications

Background: The ability to predict the prognosis of patients with ovarian cancer can greatly improve disease management. However, the knowledge on the mechanism of the prediction is limited. We sought to deconvolute the attention feature learnt by a deep learning convolutional neural networks trained with whole-slide images (WSIs) of hematoxylin-and-eosin (H&E)-stained tumor samples using spatial transcriptomic data.

Methods: In this study, 773 WSIs of H&E-stained tumor sections from 335 patients with treatment naïve high-grade serous ovarian cancer who were included in The Cancer Genome Atlas (TCGA) Pan-Cancer study were used to train, and validate, and to test a ResNet101 CNN …


Adverse Side Effects Of Hemodialysis In Patients With End-Stage Chronic Renal Disease At Kassala Dialysis Center, Sudan, Muzamil Ahmed, Mustafa Khairelseed, Muzdlefa Ahmed, Mutaz Mohammed, Mutaz Omara Jan 2025

Adverse Side Effects Of Hemodialysis In Patients With End-Stage Chronic Renal Disease At Kassala Dialysis Center, Sudan, Muzamil Ahmed, Mustafa Khairelseed, Muzdlefa Ahmed, Mutaz Mohammed, Mutaz Omara

Iraqi National Journal of Medicine

Background: Hemodialysis is a treatment for advanced renal failure; however, various complications can arise following the procedure. Aim: This study aimed to investigate the incidence of adverse side effects during hemodialysis in patients with chronic renal failure. Methods: This descriptive hospital-based study was conducted on 105 patients treated with hemodialysis between November 2020 and January 2021 at the Kassala Dialysis Center in Kassala City, Kassala State, Sudan. Data were collected through interviews using a questionnaire designed to address the research questions. The data were analyzed using the software Statistical Package for the Social Sciences version 16. Results: The findings indicated …


Case Report: A Durable Response To Anastrozole Re-Challenge With Everolimus In A Patient With Advanced-Stage Estrogen Receptor-Positive Breast Cancer, Vincent Emma P Weiss Jan 2025

Case Report: A Durable Response To Anastrozole Re-Challenge With Everolimus In A Patient With Advanced-Stage Estrogen Receptor-Positive Breast Cancer, Vincent Emma P Weiss

Iraqi National Journal of Medicine

Estrogen receptor-positive breast cancer is a heterogeneous disease characterized by its dependence on estrogen for growth and progression. Although hormonal therapy remains the cornerstone of treatment, many patients eventually develop resistance, leading to recurrence and disease progression. This case report describes a durable response to a rechallenge with Anastrozole (Arimidex) in combination with Everolimus (Afinitor), an mTOR inhibitor, in a patient with advanced (stage IV) ER+ metastatic breast cancer.


A Paper-Based Hpv E7 Oncoprotein Assay For Cervical Precancer Detection At The Point Of Care, Chelsey A Smith, Sai Paul, Karen E Haney, Sonia G Parra, Meaghan Bond, Leticia López, Mauricio Maza, Juan Felix, Preetha Ramalingam, Pablo Escobar, Philip E Castle, Kathleen M Schmeler, Rebecca R Richards-Kortum Jan 2025

A Paper-Based Hpv E7 Oncoprotein Assay For Cervical Precancer Detection At The Point Of Care, Chelsey A Smith, Sai Paul, Karen E Haney, Sonia G Parra, Meaghan Bond, Leticia López, Mauricio Maza, Juan Felix, Preetha Ramalingam, Pablo Escobar, Philip E Castle, Kathleen M Schmeler, Rebecca R Richards-Kortum

Faculty, Staff and Student Publications

Cervical cancer, while preventable through screening and treatment of cervical precancer, remains a global challenge with a disproportionately high burden of disease in resource-limited settings, especially in low- and middle-income countries (LMICs). Lack of affordable, easy-to-use screening and diagnostic tests contributes to this disparity. Most commercially available tests are not appropriate for use in LMICs due to resource constraints. Specifically, HPV mRNA and oncoprotein tests that have high specificity for cervical precancer and cancer require complex sample preparation protocols and expensive instrumentation. To address these limitations, an HPV E7 oncoprotein assay for HPV16, 18, and 45 was developed that is …


Heartmate 3 Left Ventricular Assist Device Infection-Related Left Ventricular Pseudoaneurysm: Extirpation In The Setting Of Left Ventricular Recovery, Hari K. Rajagopal, Mark J. Zucker, J. Eduardo Rame, Louis E. Samuels, Keshava Rajagopal Jan 2025

Heartmate 3 Left Ventricular Assist Device Infection-Related Left Ventricular Pseudoaneurysm: Extirpation In The Setting Of Left Ventricular Recovery, Hari K. Rajagopal, Mark J. Zucker, J. Eduardo Rame, Louis E. Samuels, Keshava Rajagopal

Department of Surgery Faculty Papers

No abstract provided.


Joint Fluid Multi-Omics Improves Diagnostic Confidence During Evaluation Of Children With Presumed Septic Arthritis, Yolanda Peña-López, Naureen G Tareen, Bo Zhang, Indu Raman, Carlos A Arana, Chengsong Zhu, Yang Liu, Pratibha Selvakumar, Nicolai S C Van Oers, Simrat Morris, Lora V Hooper, Lawson A B Copley, Prithvi Raj Jan 2025

Joint Fluid Multi-Omics Improves Diagnostic Confidence During Evaluation Of Children With Presumed Septic Arthritis, Yolanda Peña-López, Naureen G Tareen, Bo Zhang, Indu Raman, Carlos A Arana, Chengsong Zhu, Yang Liu, Pratibha Selvakumar, Nicolai S C Van Oers, Simrat Morris, Lora V Hooper, Lawson A B Copley, Prithvi Raj

Faculty, Staff and Student Publications

Background: An accurate diagnosis of septic versus reactive or autoimmune arthritis remains clinically challenging. A multi-omics strategy comprising metagenomic and proteomic technologies were undertaken for children diagnosed with presumed septic arthritis to advance clinical diagnoses and care for affected individuals.

Methods: Twelve children with suspected septic arthritis were prospectively enrolled to compare standard of care tests with a rapid multi-omics approach. The multi-omics combined bacterial 16S rRNA metagenomics, single cell transcriptomics, and proteomics on knee joint fluid specimens. The diagnostic value of the multi-omics was ascertained relative to standard of care culture and PCR-negative results.

Results: Ten children with suspected …


An Evaluation Of Sports Nutrition Knowledge And Influencing Factors In Ncaa Division Iii Athletes, Kerrie Berends, Michael J. Wierenga, Madeline Frens Jan 2025

An Evaluation Of Sports Nutrition Knowledge And Influencing Factors In Ncaa Division Iii Athletes, Kerrie Berends, Michael J. Wierenga, Madeline Frens

University Faculty Publications and Creative Works

Introduction:This study evaluated the sports nutrition knowledge of NCAA Division III (DIII) athletes, examining the influence of demographic and sport-specific factors. Nutrition is a critical component of athletic performance, recovery, and overall health, yet prior research indicatescollegiate athletes often lack adequate nutrition knowledge.

Methods: A total of 412 athletes, representing 17 different sports across endurance, power, and skill categories, completed the validated Abridged Nutrition for Sport Knowledge Questionnaire (A-NSKQ). The sample included freshmen through fifth-year seniorathletes, predominantlyCaucasian (85%).

Results: The average A-NSKQ score was 17.1 out of 35 (48.9%), indicating suboptimal knowledge. Significant differences were found across …


Atm Expression And Activation In Ataxia Telangiectasia Patients With And Without Class Switch Recombination Defects, Fereshte Salami, Tannaz Moeini Shad, Nazanin Fathi, Hanieh Mojtahedi, Marzie Esmaeili, Sepideh Shahkarami, Ladan Gol Mohammad Pour Afrakoti, Parisa Amirifar, Samaneh Delavari, Hassan Nosrati, Azadehsadat Razavi, Mohammad Reza Ranjouri, Mahsa Yousefpour, Zahra Hamidi Esfahani, Gholamreza Azizi, Mahmoudreza Ashrafi, Nima Rezaei, Reza Yazdani, Hassan Abolhassani Jan 2025

Atm Expression And Activation In Ataxia Telangiectasia Patients With And Without Class Switch Recombination Defects, Fereshte Salami, Tannaz Moeini Shad, Nazanin Fathi, Hanieh Mojtahedi, Marzie Esmaeili, Sepideh Shahkarami, Ladan Gol Mohammad Pour Afrakoti, Parisa Amirifar, Samaneh Delavari, Hassan Nosrati, Azadehsadat Razavi, Mohammad Reza Ranjouri, Mahsa Yousefpour, Zahra Hamidi Esfahani, Gholamreza Azizi, Mahmoudreza Ashrafi, Nima Rezaei, Reza Yazdani, Hassan Abolhassani

Department of Neurology Faculty Papers

BACKGROUND: Ataxia telangiectasia mutated (ATM) kinase plays a critical role in DNA double-strand break (DSB) repair. Ataxia telangiectasia (A-T) patients exhibit abnormalities in immunoglobulin isotype expression and class switch recombination (CSR). This study investigates the role of residual ATM kinase expression and activity in the severity of A-T disease.

METHODS: A-T patients with defined genetic diagnoses were classified based on CSR and based on the severity of their medical complications. Isolated peripheral blood mononuclear cells from any patient were evaluated before and after exposure to 0.5 Gy ionizing radiation for one minute. Western blotting was performed to identify the expression …


The Influence Of Single-Leg Isometrics On Ground Interactions During A Baseball Swing, Thomas Johnson Jan 2025

The Influence Of Single-Leg Isometrics On Ground Interactions During A Baseball Swing, Thomas Johnson

Doctorate in Kinesiology

Sports science plays a vital role in modern athletics, with metrics like GRF serving as key performance indicators, particularly in baseball. This study investigated the effects of a single-leg fast-ramping isometric exercise targeting hamstring activation on vGRF at the lead leg during a baseball swing. Ten male participants (mean age 15.7 years, SD = 1.42) participated in a randomized within-subject experimental design. GRF was measured at toe touch, heel plant, and contact using a pressure plate (Sensors Edge) and synchronized video. The intervention involved a 90/90 hip lift to stabilize the lumbopelvic complex, aiming to enhance GRF. Pre- and post-intervention …


Piezo1-Mediated Mechanotransduction Regulates Collagen Synthesis On Nanostructured 2d And 3d Models Of Fibrosis, Neda Rashidi, Natalia S Harasymowicz, Alireza Savadipour, Nancy Steward, Ruhang Tang, Sara Oswald, Farshid Guilak Jan 2025

Piezo1-Mediated Mechanotransduction Regulates Collagen Synthesis On Nanostructured 2d And 3d Models Of Fibrosis, Neda Rashidi, Natalia S Harasymowicz, Alireza Savadipour, Nancy Steward, Ruhang Tang, Sara Oswald, Farshid Guilak

2020-Current year OA Pubs

Progressive fibrosis can lead to tissue malfunction and organ failure due to the pathologic accumulation of a collagen-rich extracellular matrix. In vitro models provide useful tools for deconstructing the roles of specific biomechanical or biological mechanisms, such as substrate micro- and nanoscale architecture, in these processes for identifying potential therapeutic targets. Here, we investigated how the mechanosensitive ion channel PIEZO1 influences fibrotic gene and protein expression in adipose-derived stem cells (hASCs). Specifically, we examined the role of PIEZO1 and the mechanosensitive transcription factors YAP/TAZ in sensing aligned or non-aligned substrate architecture to regulate collagen formation. We utilized both 2D microphotopatterned …


Dna Polymerase Zeta Can Efficiently Replicate Structures Formed By At/Ta Repeat Sequences And Prevent Their Deletion, Mili Das, Suzanne E Hile, Jennifer Brewster, Jan Leendert Boer, Rachel Bezalel-Buch, Qiong Guo, Wei Yang, Peter M Burgers, Kristin A Eckert, Catherine H Freudenreich Jan 2025

Dna Polymerase Zeta Can Efficiently Replicate Structures Formed By At/Ta Repeat Sequences And Prevent Their Deletion, Mili Das, Suzanne E Hile, Jennifer Brewster, Jan Leendert Boer, Rachel Bezalel-Buch, Qiong Guo, Wei Yang, Peter M Burgers, Kristin A Eckert, Catherine H Freudenreich

2020-Current year OA Pubs

Long AT repeat tracts form non-B DNA structures that stall DNA replication and cause chromosomal breakage. AT repeats are abundant in human common fragile sites (CFSs), genomic regions that undergo breakage under replication stress. Using an in vivo yeast model system containing AT-rich repetitive elements from human CFS FRA16D, we find that DNA polymerase zeta (Pol ζ) is required to prevent breakage and subsequent deletions at hairpin and cruciform forming (AT/TA)n sequences, with little to no role at an (A/T)28 repeat or a control non-structure forming sequence. DNA polymerase eta is not protective for deletions at AT-rich structures, while DNA …


Methylgrapher: Genome-Graph-Based Processing Of Dna Methylation Data From Whole Genome Bisulfite Sequencing, Wenjin Zhang, Juan F Macias-Velasco, Xiaoyu Zhuo, Edward A Belter, Chad Tomlinson, John Garza, Nina Tekkey, Daofeng Li, Ting Wang Jan 2025

Methylgrapher: Genome-Graph-Based Processing Of Dna Methylation Data From Whole Genome Bisulfite Sequencing, Wenjin Zhang, Juan F Macias-Velasco, Xiaoyu Zhuo, Edward A Belter, Chad Tomlinson, John Garza, Nina Tekkey, Daofeng Li, Ting Wang

2020-Current year OA Pubs

Genome graphs, including the recently released draft human pangenome graph, can represent the breadth of genetic diversity and thus transcend the limits of traditional linear reference genomes. However, there are no genome-graph-compatible tools for analyzing whole genome bisulfite sequencing (WGBS) data. To close this gap, we introduce methylGrapher, a tool tailored for accurate DNA methylation analysis by mapping WGBS data to a genome graph. Notably, methylGrapher can reconstruct methylation patterns along haplotype paths precisely and efficiently. To demonstrate the utility of methylGrapher, we analyzed the WGBS data derived from five individuals whose genomes were included in the first Human Pangenome …


The Gift Of Life, Nicole Gunawansa Jan 2025

The Gift Of Life, Nicole Gunawansa

Eastern Virginia Medical Journal

This article does not have an Abstract


Perspectives On A Recently Merged Family Medicine Residency Program: A Post-Match Survey Of Ranked, Unmatched Applicants, John E. Snellings, Karo G. Ohanian, Ismail El Moudden Jan 2025

Perspectives On A Recently Merged Family Medicine Residency Program: A Post-Match Survey Of Ranked, Unmatched Applicants, John E. Snellings, Karo G. Ohanian, Ismail El Moudden

Eastern Virginia Medical Journal

Introduction: Residency program mergers are a topic of much consternation and relatively little scholarly investigation in graduate medical education. After undergoing a residency merger in July 2020, the newly formed Eastern Virginia Medical School (EVMS) Family Medicine Residency Program investigated the effects of the merger on the perspectives of the applicant pool for the subsequent 2020–2021 recruiting season. Methods: We conducted an anonymous survey of EVMS Family Medicine applicants during the 2020– 2021 recruiting season. Students who interviewed with the residency and were subsequently placed on the program’s National Residency Matching Program (NRMP) rank order list (ROL) but did not …


A Half Century Of Criminalizing Serious Mental Illness: Observations And Considerations, Arthur J. Lurigio Jan 2025

A Half Century Of Criminalizing Serious Mental Illness: Observations And Considerations, Arthur J. Lurigio

DePaul Journal of Health Care Law

This article describes the difficulties of working with people with serious mental illnesses (PSMIs) at every stage of the criminal justice process—from arrest to post- incarceration release from prison. The needs of PSMI for mental health and social services are complex and require different case management plans and strategies at various points in the process. Severe mental illnesses (SMIs), such as schizophrenia, major depression, and bipolar disorder, stem from abnormalities in the brain structure and neuroprocessing that cause significant distress and dysfunction. People with serious mental illnesses typically suffer from a variety of other related problems (e.g., addiction) that can …


Mental Health Courts: Is There Any Hope For Mental Illness In An Outdated Criminal Justice System?, Brock Imel Jan 2025

Mental Health Courts: Is There Any Hope For Mental Illness In An Outdated Criminal Justice System?, Brock Imel

DePaul Journal of Health Care Law

Mental health awareness is an ever-growing field of study that has garnered more attention in America after the COVID-19 pandemic. As far back as colonial America, mental illness was considered taboo in society and often reprimanded with punishable crimes. This article seeks to divulge into the history of mental health and its relation to the law, as well as how the creation of mental health courts has led to a decrease in recidivism.

This article aims to provide the reader with an understanding of the evolving field of mental health courts and provide state legislatures foundational knowledge for creating and …